AQP1 aquaporin 1 (Colton blood group)
Gene ID: 358, updated on 11-Apr-2024Gene type: protein coding
Also known as: CO; CHIP28; AQP-CHIP
- See all available tests in GTR for this gene
- Go to complete Gene record for AQP1
- Go to Variation Viewer for AQP1 variants
Summary
This gene encodes a small integral membrane protein with six bilayer spanning domains that functions as a water channel protein. This protein permits passive transport of water along an osmotic gradient. This gene is a possible candidate for disorders involving imbalance in ocular fluid movement. [provided by RefSeq, Aug 2016]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study of nephrolithiasis in the Japanese population identifies novel susceptible Loci at 5q35.3, 7p14.3, and 13q14.1. GeneReviews: Not available | |
| Colton Blood group system | See labs |
Genomic context
- Location:
- 7p14.3
- Sequence:
- Chromosome: 7; NC_000007.14 (30911853..30925516)
- Total number of exons:
- 4
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for AQP1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- Blood Group Antigen Gene Mutation Database (BGMUT)
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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