rs104894328
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs104894328(C;T) |
| Make rs104894328(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 49954663 |
| Gene | AQP2, LOC101927318 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs104894328 |
| dbSNP (classic) | rs104894328 |
| ClinGen | rs104894328 |
| ebi | rs104894328 |
| HLI | rs104894328 |
| Exac | rs104894328 |
| Gnomad | rs104894328 |
| Varsome | rs104894328 |
| LitVar | rs104894328 |
| Map | rs104894328 |
| PheGenI | rs104894328 |
| Biobank | rs104894328 |
| 1000 genomes | rs104894328 |
| hgdp | rs104894328 |
| ensembl | rs104894328 |
| geneview | rs104894328 |
| scholar | rs104894328 |
| rs104894328 | |
| pharmgkb | rs104894328 |
| gwascentral | rs104894328 |
| openSNP | rs104894328 |
| 23andMe | rs104894328 |
| SNPshot | rs104894328 |
| SNPdbe | rs104894328 |
| MSV3d | rs104894328 |
| GWAS Ctlg | rs104894328 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs104894328(T;T) |
| Alt | rs104894328(T;T) |
| Reference | Rs104894328(C;C) |
| Significance | Pathogenic |
| Disease | Diabetes insipidus Nephrogenic diabetes insipidus |
| Variation | info |
| Gene | AQP2 LOC101927318 |
| CLNDBN | Diabetes insipidus, nephrogenic, autosomal recessive Nephrogenic diabetes insipidus |
| Reversed | 0 |
| HGVS | NC_000012.11:g.50348446C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000019406.27, RCV000029344.1, |
[PMID 10997928] Importance of aquaporin-2 expression levels in genotype -phenotype studies in nephrogenic diabetes insipidus.
[PMID 11076974
] The subcellular localization of an aquaporin-2 tetramer depends on the stoichiometry of phosphorylated and nonphosphorylated monomers.
[PMID 11143979] Consequences of aquaporin 2 tetramerization for genetics and routing.
[PMID 14593099] Glycosylation is important for cell surface expression of the water channel aquaporin-2 but is not essential for tetramerization in the endoplasmic reticulum.
[PMID 16120822] Lack of arginine vasopressin-induced phosphorylation of aquaporin-2 mutant AQP2-R254L explains dominant nephrogenic diabetes insipidus.
