Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Gene entry

AQP1

aquaporin 1 (Colton blood group)

Chromosome
7
Cytoband
7p14.3
Variants (rsID)
32

AQP1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 7 (region 7p14.3). Its official name is “aquaporin 1 (Colton blood group)”. The reference table lists 32 variants (rsID) for this gene.

Clinically classified variants

2 reference-table entries with clinical significance.

  • rs28362692Benignsingle nucleotide variantCOLTON BLOOD GROUP POLYMORPHISM
  • rs104894004Pathogenicsingle nucleotide variantColton-null phenotype

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.