Search Result
| Gene id | 43 | ||||||||||||||||||||||
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| Gene Summary SNPs Protein Summary Gene ontology KEGG pathways Diseases PubMed | |||||||||||||||||||||||
Gene Summary |
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| Gene Symbol | ACHE Gene UCSC Ensembl | ||||||||||||||||||||||
| Aliases | ACEE, ARACHE, N-ACHE, YT | ||||||||||||||||||||||
| Gene name | acetylcholinesterase (Cartwright blood group) | ||||||||||||||||||||||
| Alternate names | acetylcholinesterase, Yt blood group, acetylcholinesterase (Yt blood group), apoptosis-related acetylcholinesterase, | ||||||||||||||||||||||
| Gene location |
7q22.1 (100896993: 100889993) Exons: 8 NC_000071.6 |
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| Gene summary(Entrez) |
Acetylcholinesterase hydrolyzes the neurotransmitter, acetylcholine at neuromuscular junctions and brain cholinergic synapses, and thus terminates signal transmission. It is also found on the red blood cell membranes, where it constitutes the Yt blood gro |
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| OMIM | 100740 | ||||||||||||||||||||||
SNPs |
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> rs11204546 Strand: Allele origin: Allele change: Mutation type: snv NC_000001.11 g.247896410T>A NC_000001.11 g.247896410T>C NC_000001.11 g.247896410T>G NC_000001.10 g.248059712T>A NC_000001.10 g.248059712T>C NC_000001.10 g.248059712T>G NG_053132.1 g.5824T>A NG_053132.1 g.5824T>C NG_053132.1 g.5824T>G NM_001001957.2 c rs10459953 Strand: Allele origin: Allele change: Mutation type: snv NC_000017.11 g.27800492C>A NC_000017.11 g.27800492C>G NC_000017.11 g.27800492C>T NC_000017.10 g.26127518C>A NC_000017.10 g.26127518C>G NC_000017.10 g.26127518C>T NG_011470.1 g.5038G>T NG_011470.1 g.5038G>C NG_011470.1 g.5038G>A NM_000625.4 c.-227G>T rs9461718 Strand: Allele origin: Allele change: Mutation type: snv NC_000006.12 g.31760045A>C NC_000006.12 g.31760045A>G NC_000006.11 g.31727822A>C NC_000006.11 g.31727822A>G NG_011611.1 g.25049A>C NG_011611.1 g.25049A>G NT_113891.3 g.3237302A>C NT_113891.3 g.3237302A>G NT_113891.2 g.3237408A>C NT_113891.2 g.3237408 rs6103330 Strand: Allele origin: Allele change: Mutation type: snv NC_000020.11 g.43458814T>A NC_000020.11 g.43458814T>C NC_000020.11 g.43458814T>G NC_000020.10 g.42087454T>A NC_000020.10 g.42087454T>C NC_000020.10 g.42087454T>G NG_029906.1 g.5951T>A NG_029906.1 g.5951T>C NG_029906.1 g.5951T>G|SEQ=[T/A/C/G]|GENE=SRS rs3918242 Strand: Allele origin: Allele change: Mutation type: snv NC_000020.11 g.46007337C>T NC_000020.10 g.44635976C>T NG_011468.1 g.3430C>T|SEQ=[C/T]|GENE=MMP9 rs3917158 Strand: Allele origin: Allele change: Mutation type: snv NC_000014.9 g.75978126T>A NC_000014.9 g.75978126T>C NC_000014.9 g.75978126T>G NC_000014.8 g.76444469T>A NC_000014.8 g.76444469T>C NC_000014.8 g.76444469T>G NG_011715.1 g.8624A>T NG_011715.1 g.8624A>G NG_011715.1 g.8624A>C|SEQ=[T/A/C/G]|GENE=TGFB3 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 rs3117572 Strand: Allele origin: Allele change: Mutation type: snv NC_000006.12 g.31749915A>C NC_000006.12 g.31749915A>G NC_000006.11 g.31717692A>C NC_000006.11 g.31717692A>G NG_011611.1 g.14919A>C NG_011611.1 g.14919A>G NT_113891.3 g.3227176G>A NT_113891.3 g.3227176G>C NT_113891.2 g.3227282G>A NT_113891.2 g.3227282 rs3115672 Strand: Allele origin: Allele change: Mutation type: snv NC_000006.12 g.31760120C>T NC_000006.11 g.31727897C>T NG_011611.1 g.25124C>T NM_025259.5 c.1767C>T NM_002441.4 c.1716C>T NM_172165.3 c.1716C>T NM_172166.3 c.1716C>T NT_113891.3 g.3237377T>C NT_113891.2 g.3237483T>C NT_167245.2 g.3007894C>T NT_167245. rs2299850 Strand: Allele origin: Allele change: Mutation type: snv NC_000006.12 g.31750258C>T NC_000006.11 g.31718035C>T NG_011611.1 g.15262C>T NT_113891.3 g.3227519C>T NT_113891.2 g.3227625C>T NT_167245.2 g.2998029C>T NT_167245.1 g.3003614C>T NT_167247.2 g.3092140C>T NT_167247.1 g.3097725C>T NT_167248.2 g.3006081C> rs2284792 Strand: Allele origin: Allele change: Mutation type: snv NC_000014.9 g.75977236G>A NC_000014.9 g.75977236G>C NC_000014.9 g.75977236G>T NC_000014.8 g.76443579G>A NC_000014.8 g.76443579G>C NC_000014.8 g.76443579G>T NG_011715.1 g.9514C>T NG_011715.1 g.9514C>G NG_011715.1 g.9514C>A|SEQ=[G/A/C/T]|GENE=TGFB3 rs2268626 Strand: Allele origin: Allele change: Mutation type: snv NC_000014.9 g.75978424C>G NC_000014.9 g.75978424C>T NC_000014.8 g.76444767C>G NC_000014.8 g.76444767C>T NG_011715.1 g.8326G>C NG_011715.1 g.8326G>A|SEQ=[C/G/T]|GENE=TGFB3 rs2268625 Strand: Allele origin: Allele change: Mutation type: snv NC_000014.9 g.75973291C>G NC_000014.9 g.75973291C>T NC_000014.8 g.76439634C>G NC_000014.8 g.76439634C>T NG_011715.1 g.13459G>C NG_011715.1 g.13459G>A|SEQ=[C/G/T]|GENE=TGFB3 rs2075789 Strand: Allele origin: Allele change: Mutation type: snv NC_000006.12 g.31740551C>T NC_000006.11 g.31708328C>T NG_011611.1 g.5555C>T NM_025259.5 c.85C>T NM_002441.4 c.85C>T NM_172166.4 c.85C>T NM_172166.3 c.85C>T NM_172165.3 c.85C>T NT_113891.3 g.3217831C>T NT_113891.2 g.3217937C>T NT_167245.2 g.2988317C>T rs1045642 Strand: Allele origin: Allele change: Mutation type: snv NC_000007.14 g.87509329A>G NC_000007.14 g.87509329A>T NC_000007.13 g.87138645A>G NC_000007.13 g.87138645A>T NG_011513.1 g.208920T>C NG_011513.1 g.208920T>A NM_000927.4 c.3435T>C NM_000927.4 c.3435T>A NM_001348945.1 c.3645T>C NM_001348945.1 c.3645T>A 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 rs1801085 Strand: Allele origin: Allele change: Mutation type: snv NC_000007.14 g.27128971A>G NC_000007.13 g.27168590A>G NM_002141.4 c.*254T>C NM_002141.5 c.*254T>C|SEQ=[A/G]|GENE=HOXA3 HOXA4 3201 HOXA-AS2 285943 rs2656927 Strand: Allele origin: Allele change: Mutation type: snv NC_000019.10 g.4908263C>T NC_000019.9 g.4908275C>T NG_033256.2 g.10184C>T|SEQ=[C/T]|GENE=UHRF1 ARRDC5 645432 rs8103849 Strand: Allele origin: Allele change: Mutation type: snv NC_000019.10 g.4909617C>G NC_000019.9 g.4909629C>G NG_033256.2 g.11538C>G NM_001048201.3 c.-49C>G NM_001048201.2 c.-49C>G NM_001048201.1 c.-49C>G XM_011527942.2 c.-49C>G|SEQ=[C/G]|GENE=UHRF1 ARRDC5 645432 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 rs200847762 Strand: Allele origin: Allele change: Mutation type: snv NC_000006.12 g.32129371G>A NC_000006.11 g.32097148G>A NG_033940.1 g.3870C>T NT_113891.3 g.3567702G>A NT_113891.2 g.3567808G>A NT_167247.2 g.3471391G>A NT_167247.1 g.3476976G>A NT_167245.2 g.3370735G>A NT_167245.1 g.3376320G>A NM_022110.4 c.410C>T NM_ rs1048943 Strand: Allele origin: Allele change: Mutation type: snv NC_000015.10 g.74720644T>A NC_000015.10 g.74720644T>C NC_000015.10 g.74720644T>G NC_000015.9 g.75012985T>A NC_000015.9 g.75012985T>C NC_000015.9 g.75012985T>G NG_008431.2 g.3103T>A NG_008431.2 g.3103T>C NG_008431.2 g.3103T>G NM_000499.4 c.1384A>T NM_ rs26279 Strand: Allele origin: Allele change: Mutation type: snv NC_000005.10 g.80873118G>A NC_000005.9 g.80168937G>A NG_016607.2 g.223644G>A NG_016607.1 g.223644G>A NM_002439.5 c.3133G>A NM_002439.4 c.3133G>A NP_002430.3 p.Ala1045Thr|SEQ=[G/A]|GENE=MSH3 rs139884 Strand: Allele origin: Allele change: Mutation type: snv NC_000022.11 g.37973969A>G NC_000022.10 g.38369976A>G NG_007948.1 g.15564T>C NM_006941.4 c.927T>C NM_006941.3 c.927T>C|SEQ=[A/G]|GENE=POLR2F SOX10 6663 rs4646903 Strand: Allele origin: Allele change: Mutation type: snv NC_000015.10 g.74719300A>G NC_000015.10 g.74719300A>T NC_000015.9 g.75011641A>G NC_000015.9 g.75011641A>T NG_008431.2 g.1759A>G NG_008431.2 g.1759A>T NG_061374.1 g.11229T>C NG_061374.1 g.11229T>A|SEQ=[A/G/T]|GENE=CYP1A1 rs3917187 Strand: Allele origin: Allele change: Mutation type: snv NC_000014.9 g.75965793T>C NC_000014.8 g.76432136T>C NG_011715.1 g.20957A>G|SEQ=[T/C]|GENE=TGFB3 rs2297518 Strand: Allele origin: Allele change: Mutation type: snv NC_000017.11 g.27769571G>A NC_000017.10 g.26096597G>A NG_011470.1 g.35959C>T NM_000625.4 c.1823C>T NP_000616.3 p.Ser608Leu|SEQ=[G/A]|GENE=NOS2 rs4646422 Strand: Allele origin: Allele change: Mutation type: snv NC_000015.10 g.74722964C>G NC_000015.10 g.74722964C>T NC_000015.9 g.75015305C>G NC_000015.9 g.75015305C>T NG_008431.2 g.5423C>G NG_008431.2 g.5423C>T NM_000499.4 c.134G>C NM_000499.4 c.134G>A NM_000499.5 c.134G>C NM_000499.5 c.134G>A NM_000499.3 c.13 rs2059807 Strand: Allele origin: Allele change: Mutation type: snv NC_000019.10 g.7166098A>G NC_000019.10 g.7166098A>T NC_000019.9 g.7166109A>G NC_000019.9 g.7166109A>T NG_008852.2 g.132903T>C NG_008852.2 g.132903T>A|SEQ=[A/G/T]|GENE=INSR 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 |
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Protein Summary |
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Gene ontology
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KEGG pathways
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Diseases
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PubMed references
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