Health / Medical Topics |
CYP2C19*2 Allele
Human CYP2C19*2 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*2 protein. The CYP2C19*2 allele exhibits a clinically-relevant SNP (c.681G>A) in exon 5 that causes a splicing defect; this alteration results in a truncated cytochrome P450 2C19*2 protein that is enzymatically inactive. (NCI Thesaurus)
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