CYP2C19*1 Allele

**Semantic type:** Gene or Genome

**Definition:** Human CYP2C19*1 allele is located within 10q24.1-q24.3 and is approximately 90 kb in length. This allele, a variant form of the CYP2C19 wild-type allele, encodes cytochrome P450 2C19*1 protein. There are multiple haplotypes of this allele. The nucleotide sequence of CYP2C19*1A is identical to that of the wild-type allele and exhibits no mutations. CYP2C19*1B and CYP2C19*1C both exhibit a SNP (c.991A>G) in exon 7 that results in an I331V coding change. This alteration in protein sequence has no effect on the enzymatic activity of the corresponding cytochrome P450 2C19*1 proteins.

**Synonyms:** - CYP2C19*1 - CYP2C19, I331V - CYP2C19, c.991A>G - CYP2C19, wild-type - Cytochrome P450, Family 2, Subfamily C, Polypeptide 19*1 Allele