Cancer Terms

CYP2C19 1 Allele

Cancer Terms -> Gene -> Enzyme Gene -> Oxidoreductase Gene -> Cytochrome P450 Family Gene -> CYP2C19 Gene -> CYP2C19 1 Allele

CYP2C19 1 Allele 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.

CYP2C19 1 Allele Synonyms

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

Terms in CYP2C19 1 Allele category



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