Search Result
| Gene id | 361 | ||||||||||||||||||
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| Gene Summary SNPs Protein Summary Gene ontology KEGG pathways Diseases PubMed | |||||||||||||||||||
Gene Summary |
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| Gene Symbol | AQP4 Gene UCSC Ensembl | ||||||||||||||||||
| Aliases | MIWC, WCH4 | ||||||||||||||||||
| Gene name | aquaporin 4 | ||||||||||||||||||
| Alternate names | aquaporin-4, aquaporin type4, mercurial-insensitive water channel, | ||||||||||||||||||
| Gene location |
18q11.2 (26865802: 26852037) Exons: 6 NC_000001.11 |
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| Gene summary(Entrez) |
This gene encodes a member of the aquaporin family of intrinsic membrane proteins that function as water-selective channels in the plasma membranes of many cells. This protein is the predominant aquaporin found in brain and has an important role in brain |
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| OMIM | 600308 | ||||||||||||||||||
SNPs |
rs3747052 Strand: Allele origin: Allele change: Mutation type: snv NC_000022.11 g.19131479A>G NC_000022.11 g.19131479A>T NC_000022.10 g.19118992A>G NC_000022.10 g.19118992A>T NG_008320.1 g.18199T>C NG_008320.1 g.18199T>A NM_022719.3 c.*2717T>C NM_022719.3 c.*2717T>A NM_022719.2 c.*2717T>C NM_022719.2 c.*2717T>A NR_1 rs1052756 Strand: Allele origin: Allele change: Mutation type: snv NC_000022.11 g.19132173C>T NC_000022.10 g.19119686C>T NG_008320.1 g.17505G>A NM_022719.3 c.*2023G>A NM_022719.2 c.*2023G>A NR_134304.2 n.3542G>A NR_134304.1 n.3568G>A NM_053006.5 c.774C>T NM_053006.4 c.774C>T|SEQ=[C/T]|GENE=ESS2 TSSK2 23617 rs1052763 Strand: Allele origin: Allele change: Mutation type: snv NC_000022.11 g.19132238C>T NC_000022.10 g.19119751C>T NG_008320.1 g.17440G>A NM_022719.3 c.*1958G>A NM_022719.2 c.*1958G>A NR_134304.2 n.3477G>A NR_134304.1 n.3503G>A NM_053006.5 c.839C>T NM_053006.4 c.839C>T NP_443732.3 p.Thr280Met|SEQ=[C/T]|GENE=ES rs1052773 Strand: Allele origin: Allele change: Mutation type: snv NC_000022.11 g.19132425G>A NC_000022.10 g.19119938G>A NG_008320.1 g.17253C>T NM_022719.3 c.*1771C>T NM_022719.2 c.*1771C>T NR_134304.2 n.3290C>T NR_134304.1 n.3316C>T NM_053006.5 c.1026G>A NM_053006.4 c.1026G>A|SEQ=[G/A]|GENE=ESS2 TSSK2 23617 |
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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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