AQP1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human AQP1 wild-type allele is located in the vicinity of 7p14.3 and is approximately 14 kb in length. This allele, which encodes aquaporin-1 protein, is involved in water homeostasis. Single nucleotide polymorphisms in this gene are associated with Colton blood group polymorphism and a missense mutation is associated with the Colton-null (aquaporin 1-null) phenotype.

**Synonyms:** - AQP-CHIP - Aquaporin 1 (Channel-Forming Integral Protein, 28kDa) Gene - Aquaporin 1 (Channel-Forming Integral Protein, 28kDa, CO Blood Group) Gene - Aquaporin 1 (Colton Blood Group) wt Allele - Aquaporin 1 Gene - Aquaporin 1, Colton Blood Group Antigen Gene - CHIP28 - CO - Channel-Like Integral Membrane Protein, 28-kD Gene - Channel-Like Integral Membrane Protein, 28-kDa Gene - Colton Blood Group Antigen Gene - Colton Blood Group Gene