" /> CYP2E1*2 Allele - CISMeF





Preferred Label : CYP2E1*2 Allele;

NCIt synonyms : CYP2E1, R76H; Cytochrome P450, Family 2, Subfamily E, Polypeptide 1*2 Allele; CYP2E1, g.1132G A; CYP2E1*2; CYP2E1 2 Allele;

NCIt definition : 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.;

NCIt note : Ethnicity Association: Asian;

GenBank Accession Number : NM_000773;

PubMed : 9058590;

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11/05/2024


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