CYP2E1*2 Allele

Human CYP2E1*2 allele is located within 10q24.3-qter and is approximately 12 kb in length. This allele, a variant form of the CYP2E1 wild-type allele, encodes cytochrome P450 2E1*2 protein. The CYP2E1*2 allele exhibits a clinically-relevant SNP (g.1132G>A) in exon 2 that results in a R76H coding change. This alteration in protein sequence severely decreases the enzymatic activity of the cytochrome P450 2E1*2 protein. (NCI Thesaurus)

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