Health / Medical Topics |
CYP2C19*7 Allele
Human CYP2C19*7 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*7 protein. The CYP2C19*7 allele exhibits a clinically-relevant SNP (c.IVS5+2T>A) in the invariant GT at the 5' donor splice site of intron 5 that results in a splicing defect. This alteration abolishes the enzymatic activity of the cytochrome P450 2C19*7 protein. (NCI Thesaurus)
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