CYP2C9*1 Allele

**Semantic type:** Gene or Genome

**Definition:** Human CYP2C9*1 allele is located within 10q24 and is approximately 33 kb in length. This allele, a variant form of the CYP2C9 wild-type allele, encodes cytochrome P450 2C9*1 protein. There are multiple haplotypes of this allele. The nucleotide sequence of CYP2C9*1A is identical to that of the wild-type allele and exhibits no mutations. Three other haplotypes of this allele exhibit a deletion (g.-2665delTG) and/or a SNP (g.-1188T>C) in the 5'- flanking region upstream of the gene. However, these nucleotide changes have no effect on the enzymatic activity of the corresponding cytochrome P450 2C9*1 protein.

**Synonyms:** - CYP2C9*1 - CYP2C9, Wild-Type - CYP2C9, g.-2665delTG, g.-1188T>C - Cytochrome P450, Family 2, Subfamily C, Polypeptide 9*1 Allele