Search Result
Gene id | 10 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Gene Summary SNPs Protein Summary Gene ontology KEGG pathways Diseases PubMed | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Gene Summary |
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Gene Symbol | NAT2 Gene UCSC Ensembl | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Aliases | AAC2, NAT-2, PNAT | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Gene name | N-acetyltransferase 2 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Alternate names | arylamine N-acetyltransferase 2, N-acetyltransferase 2 (arylamine N-acetyltransferase), N-acetyltransferase type 2, arylamide acetylase 2, | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Gene location |
8p22 (18386584: 18401218) Exons: 3 NC_000008.11 |
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Gene summary(Entrez) |
This gene encodes an enzyme that functions to both activate and deactivate arylamine and hydrazine drugs and carcinogens. Polymorphisms in this gene are responsible for the N-acetylation polymorphism in which human populations segregate into rapid, interm |
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OMIM | 612182 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
SNPs |
rs879255539 Strand: Allele origin: Allele change: Mutation type: delins NC_000023.11 g.19003070_19003074delinsTCT NC_000023.10 g.19021188_19021192delinsTCT NG_021304.1 g.124564_124568delinsAGA NM_005756.3 c.1993_1997delinsAGA NM_005756.4 c.1993_1997delinsAGA NM_001079858.3 c.2002_2006delinsAGA NM_001079858.2 c.2002_2006d rs879255538 Strand: Allele origin: Allele change: Mutation type: delins NC_000023.11 g.18994921del NC_000023.10 g.19013039del NG_021304.1 g.132718del NM_005756.3 c.2836del NM_005756.4 c.2836del NM_001079858.3 c.2845del NM_001079858.2 c.2845del NM_001079859.2 c.2803del NM_001079859.3 c.2803del NM_001079860.2 c.2779del NM_ rs397508617 Strand: Allele origin: Allele change: Mutation type: snv NC_000007.14 g.117642574C>A NC_000007.14 g.117642574C>T NC_000007.13 g.117282628C>A NC_000007.13 g.117282628C>T NG_016465.4 g.181791C>A NG_016465.4 g.181791C>T NM_000492.3 c.3854C>A NM_000492.3 c.3854C>T NP_000483.3 p.Ala1285Asp NP_000483.3 p.Ala1285 rs397508328 Strand: Allele origin: Allele change: Mutation type: snv NC_000007.14 g.117480095A>G NC_000007.13 g.117120149A>G NG_016465.4 g.19312A>G NM_000492.3 c.1A>G NG_056120.2 g.4125A>G NG_056120.1 g.4125A>G NP_000483.3 p.Met1Val|SEQ=[A/G]|GENE=CFTR rs386134230 Strand: Allele origin: Allele change: Mutation type: snv NC_000007.14 g.117606674G>A NC_000007.13 g.117246728G>A NG_016465.4 g.145891G>A NM_000492.3 c.2909G>A NP_000483.3 p.Gly970Asp|SEQ=[G/A]|GENE=CFTR rs202179988 Strand: Allele origin: Allele change: Mutation type: snv NC_000007.14 g.117611649C>T NC_000007.13 g.117251703C>T NG_016465.4 g.150866C>T NM_000492.3 c.3208C>T NG_056128.2 g.4703C>T NG_056128.1 g.4703C>T NP_000483.3 p.Arg1070Trp|SEQ=[C/T]|GENE=CFTR rs193922501 Strand: Allele origin: Allele change: Mutation type: snv NC_000007.14 g.117480108C>T NC_000007.13 g.117120162C>T NG_016465.4 g.19325C>T NM_000492.3 c.14C>T NG_056120.2 g.4138C>T NG_056120.1 g.4138C>T NP_000483.3 p.Pro5Leu|SEQ=[C/T]|GENE=CFTR rs142540482 Strand: Allele origin: Allele change: Mutation type: snv NC_000007.14 g.117509090G>A NC_000007.13 g.117149144G>A NG_016465.4 g.48307G>A NM_000492.3 c.221G>A NG_062452.1 g.728G>A NP_000483.3 p.Arg74Gln|SEQ=[G/A]|GENE=CFTR rs138338446 Strand: Allele origin: Allele change: Mutation type: snv NC_000007.14 g.117535269G>A NC_000007.13 g.117175323G>A NG_016465.4 g.74486G>A NM_000492.3 c.601G>A NP_000483.3 p.Val201Met|SEQ=[G/A]|GENE=CFTR rs121909046 Strand: Allele origin: Allele change: Mutation type: snv NC_000007.14 g.117535318A>G NC_000007.13 g.117175372A>G NG_016465.4 g.74535A>G NM_000492.3 c.650A>G NP_000483.3 p.Glu217Gly|SEQ=[A/G]|GENE=CFTR rs121909012 Strand: Allele origin: Allele change: Mutation type: snv NC_000007.14 g.117594990C>T NC_000007.13 g.117235044C>T NG_016465.4 g.134207C>T NM_000492.3 c.2551C>T NP_000483.3 p.Arg851Ter|SEQ=[C/T]|GENE=CFTR rs121908777 Strand: Allele origin: Allele change: Mutation type: delins NC_000007.14 g.117591987_117592070del NC_000007.14 g.117591987_117592070dup NC_000007.13 g.117232041_117232124del NC_000007.13 g.117232041_117232124dup NG_016465.4 g.131204_131287del NG_016465.4 g.131204_131287dup NM_000492.3 c.1820_1903del NM_000492 rs121908752 Strand: Allele origin: Allele change: Mutation type: snv NC_000007.14 g.117535285T>G NC_000007.13 g.117175339T>G NG_016465.4 g.74502T>G NM_000492.3 c.617T>G NP_000483.3 p.Leu206Trp|SEQ=[T/G]|GENE=CFTR rs113993960 Strand: Allele origin: Allele change: Mutation type: delins NC_000007.14 g.117559592_117559594del NC_000007.13 g.117199646_117199648del NG_016465.4 g.98809_98811del NM_000492.3 c.1521_1523del NP_000483.3 p.Phe508del|SEQ=[TCTT/T]|GENE=CFTR CFTR-AS1 111082987 rs80034486 Strand: Allele origin: Allele change: Mutation type: snv NC_000007.14 g.117652877C>G NC_000007.13 g.117292931C>G NG_016465.4 g.192094C>G NM_000492.3 c.3909C>G NP_000483.3 p.Asn1303Lys|SEQ=[C/G]|GENE=CFTR rs76027725 Strand: Allele origin: Allele change: Mutation type: snv NC_000007.14 g.50058101A>G NC_000007.13 g.50097697A>G NM_007009.3 c.375T>C NM_007009.2 c.375T>C XM_011515102.2 c.153T>C XM_011515095.2 c.375T>C XM_011515096.2 c.372T>C XM_011515100.2 c.249T>C XM_024446646.1 c.150T>C XR_001744543.1 n.439T>C XM_0115150 rs75541969 Strand: Allele origin: Allele change: Mutation type: snv NC_000007.14 g.117614699G>C NC_000007.13 g.117254753G>C NG_016465.4 g.153916G>C NM_000492.3 c.3454G>C NP_000483.3 p.Asp1152His|SEQ=[G/C]|GENE=CFTR rs62180545 Strand: Allele origin: Allele change: Mutation type: snv NC_000002.12 g.216859821A>G NC_000002.11 g.217724544A>G|SEQ=[A/G]|GENE=TNP1 LOC101928278 101928278 rs61696422 Strand: Allele origin: Allele change: Mutation type: snv NC_000007.14 g.50093121C>G NC_000007.14 g.50093121C>T NC_000007.13 g.50132717C>G NC_000007.13 g.50132717C>T NM_007009.3 c.74G>C NM_007009.3 c.74G>A NM_007009.2 c.74G>C NM_007009.2 c.74G>A XM_011515101.3 c.74G>C XM_011515101.3 c.74G>A XM_011515102.2 c rs35576928 Strand: Allele origin: Allele change: Mutation type: snv NC_000016.10 g.11281137C>A NC_000016.10 g.11281137C>G NC_000016.9 g.11374994C>A NC_000016.9 g.11374994C>G NM_002761.3 c.102G>T NM_002761.3 c.102G>C NM_002761.2 c.102G>T NM_002761.2 c.102G>C NP_002752.1 p.Arg34Ser NP_002752.1 p.Arg34Ser|SEQ=[C/A/G]|GE rs28362491 Strand: Allele origin: Allele change: Mutation type: delins NC_000004.12 g.102500998_102501001ATTG[1] NC_000004.11 g.103422155_103422158ATTG[1] NG_050628.1 g.4670_4673ATTG[1]|SEQ=[ATTG/-]|GENE=NFKB1 LOC105377621 105377621 rs17840762 Strand: Allele origin: Allele change: Mutation type: snv NC_000009.12 g.125241708G>A NC_000009.11 g.128003987G>A NG_027761.1 g.4680C>T NG_063123.1 g.439G>A XR_001746927.1 n.46G>A|SEQ=[G/A]|GENE=HSPA5 LOC107987127 107987127 rs17840761 Strand: Allele origin: Allele change: Mutation type: snv NC_000009.12 g.125241700G>A NC_000009.11 g.128003979G>A NG_027761.1 g.4688C>T NG_063123.1 g.431G>A XR_001746927.1 n.38G>A|SEQ=[G/A]|GENE=HSPA5 LOC107987127 107987127 rs17088625 Strand: Allele origin: Allele change: Mutation type: snv NC_000008.11 g.22790337T>C NC_000008.10 g.22647850T>C|SEQ=[T/C]|GENE=PEBP4 rs13206743 Strand: Allele origin: Allele change: Mutation type: snv NC_000006.12 g.52152310T>C NC_000006.11 g.52017108T>C|SEQ=[T/C]|GENE=LINCMD1 rs13017562 Strand: Allele origin: Allele change: Mutation type: snv NC_000002.12 g.28492063G>A NC_000002.12 g.28492063G>C NC_000002.11 g.28714930G>A NC_000002.11 g.28714930G>C NG_051297.1 g.8485G>A NG_051297.1 g.8485G>C|SEQ=[G/A/C]|GENE=PLB1 rs724078 Strand: Allele origin: Allele change: Mutation type: snv NC_000006.12 g.29521271G>A NC_000006.11 g.29489048G>A NT_113891.3 g.1007734G>A NT_113891.2 g.1007840G>A NT_167248.2 g.786742A>G NT_167248.1 g.792338A>G NT_167245.2 g.786798G>A NT_167245.1 g.792383G>A NT_167249.2 g.830287G>A NT_167249.1 g.829585G>A NT rs12520985 Strand: Allele origin: Allele change: Mutation type: snv NC_000005.10 g.133911770T>G NC_000005.9 g.133247461T>G|SEQ=[T/G]|GENE=WSPAR rs12088543 Strand: Allele origin: Allele change: Mutation type: snv NC_000001.11 g.84252300T>C NC_000001.10 g.84717983T>C|SEQ=[T/C]|GENE=LOC107985046 rs11754464 Strand: Allele origin: Allele change: Mutation type: snv NC_000006.12 g.31755958C>T NC_000006.11 g.31723735C>T NG_011611.1 g.20962C>T NT_113891.3 g.3233215C>T NT_113891.2 g.3233321C>T NT_167245.2 g.3003732C>T NT_167245.1 g.3009317C>T NT_167247.2 g.3097847C>T NT_167247.1 g.3103432C>T NT_167248.2 g.3011780C> rs11531577 Strand: Allele origin: Allele change: Mutation type: snv NC_000007.14 g.100180604G>T NC_000007.13 g.99778227G>T NG_034114.1 g.7881G>T NM_012447.4 c.48G>T NM_012447.3 c.48G>T NM_012447.2 c.48G>T NM_001282718.2 c.48G>T NM_001282718.1 c.48G>T NM_001282717.1 c.48G>T NM_001282716.1 c.48G>T XM_017011683.2 c.48G> rs10841496 Strand: Allele origin: Allele change: Mutation type: snv NC_000012.12 g.20368720C>A NC_000012.11 g.20521654C>A NG_030033.1 g.4476C>A NM_000921.5 c.-565C>A NM_001378408.1 c.-1593C>A NM_001378407.1 c.-565C>A|SEQ=[C/A]|GENE=PDE3A rs10250822 Strand: Allele origin: Allele change: Mutation type: snv NC_000007.14 g.17293365C>A NC_000007.14 g.17293365C>G NC_000007.14 g.17293365C>T NC_000007.13 g.17332989C>A NC_000007.13 g.17332989C>G NC_000007.13 g.17332989C>T|SEQ=[C/A/G/T]|GENE=LOC101927609 rs10247158 Strand: Allele origin: Allele change: Mutation type: snv NC_000007.14 g.17285544A>T NC_000007.13 g.17325168A>T|SEQ=[A/T]|GENE=LOC101927609 rs10129954 Strand: Allele origin: Allele change: Mutation type: snv NC_000014.9 g.72683993C>T NC_000014.8 g.73150701C>T|SEQ=[C/T]|GENE=DPF3 rs7969759 Strand: Allele origin: Allele change: Mutation type: snv NC_000012.12 g.67435923G>A NC_000012.11 g.67829703G>A|SEQ=[G/A]|GENE=LOC105369812 rs7867029 Strand: Allele origin: Allele change: Mutation type: snv NC_000009.12 g.78405502G>C NC_000009.11 g.81020418G>C|SEQ=[G/C]|GENE=LOC107987083 rs7174015 Strand: Allele origin: Allele change: Mutation type: snv NC_000015.10 g.50424871G>A NC_000015.10 g.50424871G>T NC_000015.9 g.50717068G>A NC_000015.9 g.50717068G>T NG_047101.1 g.5495G>A NG_047101.1 g.5495G>T|SEQ=[G/A/T]|GENE=USP8 rs6563386 Strand: Allele origin: Allele change: Mutation type: snv NC_000013.11 g.36202894C>A NC_000013.11 g.36202894C>G NC_000013.11 g.36202894C>T NC_000013.10 g.36777031C>A NC_000013.10 g.36777031C>G NC_000013.10 g.36777031C>T NG_033786.1 g.16722G>T NG_033786.1 g.16722G>C NG_033786.1 g.16722G>A|SEQ=[C/A/G/T]|GENE= rs4997052 Strand: Allele origin: Allele change: Mutation type: snv NC_000006.12 g.31356367T>A NC_000006.12 g.31356367T>G NC_000006.11 g.31324144T>A NC_000006.11 g.31324144T>G NG_023187.1 g.5846A>T NG_023187.1 g.5846A>C NM_005514.8 c.419A>T NM_005514.8 c.419A>C NM_005514.7 c.419A>T NM_005514.7 c.419A>C NM_005514.6 c. rs3741843 Strand: Allele origin: Allele change: Mutation type: snv NC_000012.12 g.10938833C>A NC_000012.12 g.10938833C>G NC_000012.12 g.10938833C>T NC_000012.11 g.11091432C>A NC_000012.11 g.11091432C>G NC_000012.11 g.11091432C>T NT_187658.1 g.137539C>A NT_187658.1 g.137539C>G NT_187658.1 g.137539C>T NW_003571050.1 g rs3216733 Strand: Allele origin: Allele change: Mutation type: delins NC_000009.12 g.125241516_125241517del NC_000009.12 g.125241517del NC_000009.12 g.125241517dup NC_000009.12 g.125241516_125241517dup NC_000009.11 g.128003795_128003796del NC_000009.11 g.128003796del NC_000009.11 g.128003796dup NC_000009.11 g.128003795 rs3000811 Strand: Allele origin: Allele change: Mutation type: snv NC_000001.11 g.227400755G>A NC_000001.11 g.227400755G>C NC_000001.10 g.227588456G>A NC_000001.10 g.227588456G>C|SEQ=[G/A/C]|GENE=LINC01641 rs2301365 Strand: Allele origin: Allele change: Mutation type: snv NC_000016.10 g.11281429G>T NC_000016.9 g.11375286G>T|SEQ=[G/T]|GENE=PRM1 LOC105371082 105371082 rs2231829 Strand: Allele origin: Allele change: Mutation type: snv NC_000020.11 g.45547937G>A NC_000020.10 g.44176576G>A|SEQ=[G/A]|GENE=EPPIN EPPIN-WFDC6 100526773 rs2231599 Strand: Allele origin: Allele change: Mutation type: snv NC_000001.11 g.86574546A>G NC_000001.10 g.87040229A>G NM_012128.4 c.1474A>G NM_012128.3 c.1474A>G XM_011541015.2 c.1321A>G NR_024602.1 n.1409A>G NR_024602.2 n.1407A>G NP_036260.2 p.Ser492Gly XP_011539317.1 p.Ser441Gly|SEQ=[A/G]|GENE=CLCA4 CLCA4 rs2070923 Strand: Allele origin: Allele change: Mutation type: snv NC_000016.10 g.11275998G>C NC_000016.10 g.11275998G>T NC_000016.9 g.11369855G>C NC_000016.9 g.11369855G>T|SEQ=[G/C/T]|GENE=PRM2 LOC105371082 105371082 rs1800100 Strand: Allele origin: Allele change: Mutation type: snv NC_000007.14 g.117592169C>A NC_000007.14 g.117592169C>T NC_000007.13 g.117232223C>A NC_000007.13 g.117232223C>T NG_016465.4 g.131386C>A NG_016465.4 g.131386C>T NM_000492.3 c.2002C>A NM_000492.3 c.2002C>T NP_000483.3 p.Arg668Ser NP_000483.3 p.Arg668Cy rs1799931 Strand: Allele origin: Allele change: Mutation type: snv NC_000008.11 g.18400860G>A NC_000008.10 g.18258370G>A NG_012246.1 g.14616G>A NM_000015.3 c.857G>A NM_000015.2 c.857G>A XM_017012938.1 c.857G>A NP_000006.2 p.Gly286Glu XP_016868427.1 p.Gly286Glu|SEQ=[G/A]|GENE=NAT2 rs1799930 Strand: Allele origin: Allele change: Mutation type: snv NC_000008.11 g.18400593G>A NC_000008.10 g.18258103G>A NG_012246.1 g.14349G>A NM_000015.3 c.590G>A NM_000015.2 c.590G>A XM_017012938.1 c.590G>A NP_000006.2 p.Arg197Gln XP_016868427.1 p.Arg197Gln|SEQ=[G/A]|GENE=NAT2 rs1799929 Strand: Allele origin: Allele change: Mutation type: snv NC_000008.11 g.18400484C>T NC_000008.10 g.18257994C>T NG_012246.1 g.14240C>T NM_000015.3 c.481C>T NM_000015.2 c.481C>T XM_017012938.1 c.481C>T|SEQ=[C/T]|GENE=NAT2 rs1646022 Strand: Allele origin: Allele change: Mutation type: snv NC_000016.10 g.11276073C>G NC_000016.10 g.11276073C>T NC_000016.9 g.11369930C>G NC_000016.9 g.11369930C>T NM_001286359.1 c.298G>C NM_001286359.1 c.298G>A NM_001286359.2 c.298G>C NM_001286359.2 c.298G>A NP_001273288.1 p.Ala100Pro NP_001273288.1 p.Ala1 rs1406714 Strand: Allele origin: Allele change: Mutation type: snv NC_000015.10 g.92918141C>A NC_000015.10 g.92918141C>G NC_000015.10 g.92918141C>T NC_000015.9 g.93461371C>A NC_000015.9 g.93461371C>G NC_000015.9 g.93461371C>T NG_012826.2 g.22821C>A NG_012826.2 g.22821C>G NG_012826.2 g.22821C>T NG_012826.1 g.22821C>A rs1328626 Strand: Allele origin: Allele change: Mutation type: snv NC_000013.11 g.36204635C>A NC_000013.10 g.36778772C>A NG_033786.1 g.14981G>T|SEQ=[C/A]|GENE=SOHLH2 CCDC169-SOHLH2 100526761 rs1256049 Strand: Allele origin: Allele change: Mutation type: snv NC_000014.9 g.64257333C>T NC_000014.8 g.64724051C>T NG_011535.1 g.86218G>A NM_001291712.2 c.984G>A NM_001291712.1 c.984G>A NM_001437.2 c.984G>A NM_001291723.1 c.984G>A NM_001040275.1 c.984G>A NM_001214902.1 c.984G>A NM_001271876.1 c.984G>A NR_073497. rs1129332 Strand: Allele origin: Allele change: Mutation type: snv NC_000001.11 g.2404771C>T NC_000001.10 g.2336210C>T NG_016128.1 g.17997C>T NM_007033.5 c.*1647C>T NM_007033.4 c.*1647C>T NG_008342.1 g.12801G>A NM_002617.4 c.*995G>A NM_153818.2 c.*995G>A NM_001374426.1 c.*995G>A NM_001374427.1 c.*995G>A NM_001374425 rs737008 Strand: Allele origin: Allele change: Mutation type: snv NC_000016.10 g.11281009G>A NC_000016.10 g.11281009G>T NC_000016.9 g.11374866G>A NC_000016.9 g.11374866G>T NM_002761.3 c.139C>T NM_002761.3 c.139C>A NM_002761.2 c.139C>T NM_002761.2 c.139C>A NP_002752.1 p.Arg47Ter|SEQ=[G/A/T]|GENE=PRM1 LOC1053710 rs642321 Strand: Allele origin: Allele change: Mutation type: snv NC_000005.10 g.31400896T>A NC_000005.10 g.31400896T>C NC_000005.9 g.31401003T>A NC_000005.9 g.31401003T>C NG_051574.1 g.136280A>T NG_051574.1 g.136280A>G NM_013235.5 c.*536A>T NM_013235.5 c.*536A>G NM_013235.4 c.*536A>T NM_013235.4 c.*536A>G NM_00110 rs508485 Strand: Allele origin: Allele change: Mutation type: snv NC_000011.10 g.94621313C>T NC_000011.9 g.94354479C>T NM_152431.3 c.*321C>T NM_152431.2 c.*321C>T|SEQ=[C/T]|GENE=PIWIL4 LOC105369438 105369438 rs222859 Strand: Allele origin: Allele change: Mutation type: snv NC_000017.11 g.7294475C>A NC_000017.10 g.7197794C>A NM_015982.4 c.26G>T NM_015982.3 c.26G>T XM_017024713.2 c.26G>T NP_057066.2 p.Gly9Val XP_016880202.1 p.Gly9Val|SEQ=[C/A]|GENE=YBX2 rs11594 Strand: Allele origin: Allele change: Mutation type: snv NC_000020.11 g.45542073C>A NC_000020.11 g.45542073C>G NC_000020.11 g.45542073C>T NC_000020.10 g.44170712C>A NC_000020.10 g.44170712C>G NC_000020.10 g.44170712C>T NM_020398.3 c.*71G>T NM_020398.3 c.*71G>C NM_020398.3 c.*71G>A NM_020398.4 c.*71G>T NM_0 rs10719 Strand: Allele origin: Allele change: Mutation type: snv NC_000005.10 g.31401340A>G NC_000005.10 g.31401340A>T NC_000005.9 g.31401447A>G NC_000005.9 g.31401447A>T NG_051574.1 g.135836T>C NG_051574.1 g.135836T>A NM_013235.5 c.*92T>C NM_013235.5 c.*92T>A NM_013235.4 c.*92T>C NM_013235.4 c.*92T>A NM_001100412 rs7946 Strand: Allele origin: Allele change: Mutation type: snv NC_000017.11 g.17506246C>T NC_000017.10 g.17409560C>T XM_006721418.4 c.571G>A NM_148172.3 c.634G>A NM_148172.2 c.634G>A NM_007169.2 c.523G>A NM_007169.3 c.523G>A NM_001267552.1 c.665G>A NM_001267552.2 c.665G>A NM_001267551.1 c.568G>A NM_001267551.2 c rs6631 Strand: Allele origin: Allele change: Mutation type: snv NC_000006.12 g.87085541A>C NC_000006.12 g.87085541A>T NC_000006.11 g.87795259A>C NC_000006.11 g.87795259A>T NM_000735.3 c.*215T>G NM_000735.3 c.*215T>A NM_000735.4 c.*215T>G NM_000735.4 c.*215T>A NM_001252383.1 c.*215T>G NM_001252383.1 c.*215T>A NM_0 rs2987983 Strand: Allele origin: Allele change: Mutation type: snv NC_000014.9 g.64296935A>G NC_000014.8 g.64763653A>G NG_011535.1 g.46616T>C|SEQ=[A/G]|GENE=ESR2 rs1256030 Strand: Allele origin: Allele change: Mutation type: snv NC_000014.9 g.64280452A>G NC_000014.9 g.64280452A>T NC_000014.8 g.64747170A>G NC_000014.8 g.64747170A>T NG_011535.1 g.63099T>C NG_011535.1 g.63099T>A|SEQ=[A/G/T]|GENE=ESR2 rs700519 Strand: Allele origin: Allele change: Mutation type: snv NC_000015.10 g.51215771G>A NC_000015.9 g.51507968G>A NG_007982.1 g.127828C>T NM_000103.4 c.790C>T NM_000103.3 c.790C>T NM_031226.3 c.790C>T NM_031226.2 c.790C>T NM_001347255.2 c.790C>T NM_001347255.1 c.790C>T NM_001347256.2 c.790C>T NM_001347256.1 c. rs4680 Strand: Allele origin: Allele change: Mutation type: snv NC_000022.11 g.19963748G>A NC_000022.10 g.19951271G>A NG_011526.1 g.27009G>A NM_000754.4 c.472G>A NM_000754.3 c.472G>A NM_007310.3 c.322G>A NM_007310.2 c.322G>A NM_001362828.2 c.472G>A NM_001362828.1 c.472G>A NM_001135161.2 c.472G>A NM_001135161.1 c. rs7354779 Strand: Allele origin: Allele change: Mutation type: snv NC_000021.9 g.44250887T>C NC_000021.8 g.45670770T>C NM_013369.3 c.832A>G NM_013369.4 c.832A>G NM_175867.2 c.832A>G NM_175867.3 c.832A>G NR_135514.1 n.75T>C NP_037501.2 p.Arg278Gly NP_787063.1 p.Arg278Gly|SEQ=[T/C]|GENE=DNMT3L DNMT3L-AS1 1053728 rs2032278 Strand: Allele origin: Allele change: Mutation type: snv NC_000018.10 g.77572081A>G NC_000018.10 g.77572081A>T NC_000018.9 g.75284037A>G NC_000018.9 g.75284037A>T|SEQ=[A/G/T]|GENE=LOC107985172 rs7811653 Strand: Allele origin: Allele change: Mutation type: snv NC_000007.14 g.46362671C>A NC_000007.13 g.46402269C>A|SEQ=[C/A] rs10762738 Strand: Allele origin: Allele change: Mutation type: snv NC_000010.11 g.76935709A>G NC_000010.10 g.78695467A>G NG_012270.1 g.707111T>C|SEQ=[A/G]|GENE=KCNMA1 KCNMA1-AS1 101929328 rs148454792 Strand: Allele origin: Allele change: Mutation type: snv NC_000011.10 g.30233737C>A NC_000011.9 g.30255284C>A NG_008144.1 g.7722C>A NM_000510.3 c.327C>A NM_000510.2 c.327C>A NM_001018080.2 c.327C>A NM_001018080.1 c.327C>A NP_000501.1 p.Ser109Arg NP_001018090.1 p.Ser109Arg|SEQ=[C/A]|GENE=FSHB LOC105376 rs6170 Strand: Allele origin: Allele change: Mutation type: snv NC_000011.10 g.30231961G>T NC_000011.9 g.30253508G>T NG_008144.1 g.5946G>T NM_000510.3 c.59G>T NM_000510.2 c.59G>T NM_001018080.2 c.59G>T NM_001018080.1 c.59G>T NP_000501.1 p.Ser20Ile NP_001018090.1 p.Ser20Ile|SEQ=[G/T]|GENE=FSHB LOC105376607 10 rs1727130 Strand: Allele origin: Allele change: Mutation type: snv NC_000007.14 g.100213841C>A NC_000007.14 g.100213841C>G NC_000007.14 g.100213841C>T NC_000007.13 g.99811464C>A NC_000007.13 g.99811464C>G NC_000007.13 g.99811464C>T NG_034114.1 g.41118C>A NG_034114.1 g.41118C>G NG_034114.1 g.41118C>T|SEQ=[C/A/G/T]|GE rs7910927 Strand: Allele origin: Allele change: Mutation type: snv NC_000010.11 g.63379150T>A NC_000010.11 g.63379150T>G NC_000010.10 g.65138910T>A NC_000010.10 g.65138910T>G NG_053187.1 g.147926A>T NG_053187.1 g.147926A>C|SEQ=[T/A/G]|GENE=JMJD1C rs10822184 Strand: Allele origin: Allele change: Mutation type: snv NC_000010.11 g.63577393T>C NC_000010.11 g.63577393T>G NC_000010.10 g.65337153T>C NC_000010.10 g.65337153T>G|SEQ=[T/C/G]|GENE=REEP3 rs759981524 Strand: Allele origin: Allele change: Mutation type: snv NC_000001.11 g.86579956A>C NC_000001.11 g.86579956A>G NC_000001.11 g.86579956A>T NC_000001.10 g.87045639A>C NC_000001.10 g.87045639A>G NC_000001.10 g.87045639A>T NM_012128.4 c.2371A>C NM_012128.4 c.2371A>G NM_012128.4 c.2371A>T NM_012128.3 c.2371A>C rs757773924 Strand: Allele origin: Allele change: Mutation type: snv NC_000001.11 g.86578055C>G NC_000001.11 g.86578055C>T NC_000001.10 g.87043738C>G NC_000001.10 g.87043738C>T NM_012128.4 c.2105C>G NM_012128.4 c.2105C>T NM_012128.3 c.2105C>G NM_012128.3 c.2105C>T XM_011541015.2 c.1952C>G XM_011541015.2 c.1952C>T NR_0 rs10249788 Strand: Allele origin: Allele change: Mutation type: snv NC_000007.14 g.17298523C>G NC_000007.14 g.17298523C>T NC_000007.13 g.17338147C>G NC_000007.13 g.17338147C>T XR_927073.2 n.16G>C XR_927073.2 n.16G>A|SEQ=[C/G/T]|GENE=AHR LOC101927609 101927609 rs4919686 Strand: Allele origin: Allele change: Mutation type: snv NC_000010.11 g.102832492A>C NC_000010.10 g.104592249A>C NG_007955.1 g.10042T>G|SEQ=[A/C]|GENE=CYP17A1 CYP17A1-AS1 102724307 rs3757824 Strand: Allele origin: Allele change: Mutation type: snv NC_000007.14 g.17296411T>C NC_000007.14 g.17296411T>G NC_000007.13 g.17336035T>C NC_000007.13 g.17336035T>G|SEQ=[T/C/G]|GENE=LOC101927609 rs6080550 Strand: Allele origin: Allele change: Mutation type: snv NC_000020.11 g.1778944C>G NC_000020.11 g.1778944C>T NC_000020.10 g.1759590C>G NC_000020.10 g.1759590C>T|SEQ=[C/G/T]|GENE=LOC100289473 rs498422 Strand: Allele origin: Allele change: Mutation type: snv NC_000006.12 g.32318984T>G NC_000006.11 g.32286761T>G NT_113891.3 g.3757457T>G NT_113891.2 g.3757563T>G NT_167248.2 g.3542362G>T NT_167248.1 g.3547958G>T NT_167245.2 g.3560446T>G NT_167245.1 g.3566031T>G NT_167249.2 g.3635248T>G NT_167249.1 g.3634546 rs1877031 Strand: Allele origin: Allele change: Mutation type: snv NC_000017.11 g.39657827G>A NC_000017.10 g.37814080G>A NM_006804.4 c.350G>A NM_006804.3 c.350G>A XM_017024041.2 c.350G>A NM_001165937.1 c.350G>A XM_024450549.1 c.-418G>A NM_001165938.1 c.350G>A NP_006795.3 p.Arg117Gln XP_016879530.1 p.Arg117Gln NP_001 rs3779456 Strand: Allele origin: Allele change: Mutation type: snv NC_000007.14 g.27174938T>C NC_000007.13 g.27214557T>C|SEQ=[T/C]|GENE=HOXA10 HOXA10-HOXA9 100534589 rs4986938 Strand: Allele origin: Allele change: Mutation type: snv NC_000014.9 g.64233098C>T NC_000014.8 g.64699816C>T NG_011535.1 g.110453G>A NM_001437.2 c.*39G>A NR_073497.1 n.1600G>A NM_001271877.1 c.*39G>A XM_017021080.1 c.*39G>A XM_017021079.1 c.*39G>A XM_017021081.1 c.*39G>A XM_017021082.1 c.*39G>A XM_01702108 rs605059 Strand: Allele origin: Allele change: Mutation type: snv NC_000017.11 g.42554888G>A NC_000017.11 g.42554888G>C NC_000017.11 g.42554888G>T NC_000017.10 g.40706906G>A NC_000017.10 g.40706906G>C NC_000017.10 g.40706906G>T NM_000413.3 c.937G>A NM_000413.3 c.937G>C NM_000413.3 c.937G>T NM_000413.4 c.937G>A NM_0 rs1799964 Strand: Allele origin: Allele change: Mutation type: snv NC_000006.12 g.31574531T>C NC_000006.11 g.31542308T>C NG_007462.1 g.3959T>C NG_012010.1 g.7433T>C NT_113891.3 g.3051818T>C NT_113891.2 g.3051924T>C NT_167246.2 g.2879572T>C NT_167246.1 g.2885192T>C NT_167249.2 g.2873811T>C NT_167249.1 g.2873109T>C NT rs1256063 Strand: Allele origin: Allele change: Mutation type: snv NC_000014.9 g.64235499A>G NC_000014.9 g.64235499A>T NC_000014.8 g.64702217A>G NC_000014.8 g.64702217A>T NG_011535.1 g.108052T>C NG_011535.1 g.108052T>A|SEQ=[A/G/T]|GENE=ESR2 rs1042838 Strand: Allele origin: Allele change: Mutation type: snv NC_000011.10 g.101062681C>A NC_000011.10 g.101062681C>G NC_000011.9 g.100933412C>A NC_000011.9 g.100933412C>G NG_016475.1 g.72133G>T NG_016475.1 g.72133G>C NM_000926.4 c.1978G>T NM_000926.4 c.1978G>C NM_001202474.3 c.1486G>T NM_001202474.3 c.1486G>C rs2291109 Strand: Allele origin: Allele change: Mutation type: snv NC_000005.10 g.31532322A>G NC_000005.10 g.31532322A>T NC_000005.9 g.31532429A>G NC_000005.9 g.31532429A>T NG_051574.1 g.4854T>C NG_051574.1 g.4854T>A NM_018356.3 c.-71A>G NM_018356.3 c.-71A>T NM_018356.2 c.-71A>G NM_018356.2 c.-71A>T XM_011514062.3 c rs17409893 Strand: Allele origin: Allele change: Mutation type: snv NC_000005.10 g.31532682A>G NC_000005.9 g.31532789A>G NG_051574.1 g.4494T>C|SEQ=[A/G]|GENE=DROSHA C5orf22 55322 rs8191246 Strand: Allele origin: Allele change: Mutation type: snv NC_000016.10 g.82098435A>G NC_000016.9 g.82132040A>G NM_002153.3 c.1163A>G NM_002153.2 c.1163A>G XR_001751898.2 n.1381A>G NP_002144.1 p.Ter388Trp|SEQ=[A/G]|GENE=HSD17B2 rs2241769 Strand: Allele origin: Allele change: Mutation type: snv NC_000015.10 g.50424436G>A NC_000015.10 g.50424436G>C NC_000015.9 g.50716633G>A NC_000015.9 g.50716633G>C NG_047101.1 g.5060G>A NG_047101.1 g.5060G>C NM_001128610.2 c.-284G>A NM_001128610.2 c.-284G>C NM_001128610.3 c.-284G>A NM_001128610.3 c.-284G>C rs11857513 Strand: Allele origin: Allele change: Mutation type: snv NC_000015.10 g.50497226G>A NC_000015.10 g.50497226G>C NC_000015.9 g.50789423G>A NC_000015.9 g.50789423G>C NG_047101.1 g.77850G>A NG_047101.1 g.77850G>C NM_001128610.2 c.3033G>A NM_001128610.2 c.3033G>C NM_001128610.3 c.3033G>A NM_001128610.3 c.3033G> rs3743044 Strand: Allele origin: Allele change: Mutation type: snv NC_000015.10 g.50481590A>G NC_000015.9 g.50773787A>G NG_047101.1 g.62214A>G NM_001128610.2 c.1328A>G NM_001128610.3 c.1328A>G NM_001128610.1 c.1328A>G NM_005154.5 c.1328A>G NM_005154.4 c.1328A>G NM_005154.3 c.1328A>G XM_006720761.3 c.1328A>G XM_00672 rs7110167 Strand: Allele origin: Allele change: Mutation type: snv NC_000011.10 g.94587071T>C NC_000011.9 g.94320237T>C NM_152431.3 c.738T>C NM_152431.2 c.738T>C|SEQ=[T/C]|GENE=PIWIL4 LOC105369438 105369438 rs57607909 Strand: Allele origin: Allele change: Mutation type: snv NC_000011.10 g.94593599G>C NC_000011.9 g.94326765G>C NM_152431.3 c.1108G>C NM_152431.2 c.1108G>C NP_689644.2 p.Ala370Pro|SEQ=[G/C]|GENE=PIWIL4 LOC105369438 105369438 rs593690 Strand: Allele origin: Allele change: Mutation type: snv NC_000011.10 g.94604054C>A NC_000011.10 g.94604054C>T NC_000011.9 g.94337220C>A NC_000011.9 g.94337220C>T NM_152431.3 c.1636C>A NM_152431.3 c.1636C>T NM_152431.2 c.1636C>A NM_152431.2 c.1636C>T NP_689644.2 p.Leu546Met|SEQ=[C/A/T]|GENE=PIWIL4 L rs2291102 Strand: Allele origin: Allele change: Mutation type: snv NC_000010.11 g.3148507G>A NC_000010.10 g.3190699G>A NG_052908.1 g.29335C>T NR_038284.1 n.3954G>A|SEQ=[G/A]|GENE=PITRM1 PITRM1-AS1 100507034 rs944050 Strand: Allele origin: Allele change: Mutation type: snv NC_000014.9 g.64233327T>C NC_000014.8 g.64700045T>C NG_011535.1 g.110224A>G|SEQ=[T/C]|GENE=ESR2 rs1399645 Strand: Allele origin: Allele change: Mutation type: snv NC_000002.12 g.139390262C>G NC_000002.12 g.139390262C>T NC_000002.11 g.140147832C>G NC_000002.11 g.140147832C>T|SEQ=[C/G/T]|GENE=LOC105373644 rs2063802 Strand: Allele origin: Allele change: Mutation type: snv NC_000002.12 g.139384878G>A NC_000002.12 g.139384878G>C NC_000002.11 g.140142448G>A NC_000002.11 g.140142448G>C|SEQ=[G/A/C]|GENE=LOC105373644 rs2976084 Strand: Allele origin: Allele change: Mutation type: snv NC_000003.12 g.75456899G>A NC_000003.12 g.75456899G>T NC_000003.11 g.75506050G>A NC_000003.11 g.75506050G>T NG_025593.1 g.34405C>T NG_025593.1 g.34405C>A NR_151706.1 n.721G>A NR_151706.1 n.721G>T|SEQ=[G/A/T]|GENE=LINC02018 rs2290870 Strand: Allele origin: Allele change: Mutation type: snv NC_000004.12 g.42574403T>C NC_000004.11 g.42576420T>C|SEQ=[T/C]|GENE=ATP8A1 rs4541736 Strand: Allele origin: Allele change: Mutation type: snv NC_000006.12 g.40722258C>A NC_000006.12 g.40722258C>G NC_000006.12 g.40722258C>T NC_000006.11 g.40689997C>A NC_000006.11 g.40689997C>G NC_000006.11 g.40689997C>T|SEQ=[C/A/G/T]|GENE=LOC105375052 |
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Protein Summary |
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Protein general information | P11245 Name: Arylamine N acetyltransferase 2 (EC 2.3.1.5) (Arylamide acetylase 2) (N acetyltransferase type 2) (NAT 2) (Polymorphic arylamine N acetyltransferase) (PNAT) Length: 290 Mass: 33,542 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Sequence |
MDIEAYFERIGYKNSRNKLDLETLTDILEHQIRAVPFENLNMHCGQAMELGLEAIFDHIVRRNRGGWCLQVNQLL YWALTTIGFQTTMLGGYFYIPPVNKYSTGMVHLLLQVTIDGRNYIVDAGSGSSSQMWQPLELISGKDQPQVPCIF CLTEERGIWYLDQIRREQYITNKEFLNSHLLPKKKHQKIYLFTLEPRTIEDFESMNTYLQTSPTSSFITTSFCSL QTPEGVYCLVGFILTYRKFNYKDNTDLVEFKTLTEEEVEEVLKNIFKISLGRNLVPKPGDGSLTI | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural information |
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Other Databases | GeneCards: NAT2  Malacards: NAT2 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Gene ontology
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KEGG pathways
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Diseases
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PubMed references
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