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CYP2E1*2 Allele

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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. [ ]

Term info

Label

CYP2E1*2 Allele

Synonyms
  • CYP2E1*2
  • CYP2E1*2 Allele
  • CYP2E1, R76H
  • CYP2E1, g.1132G>A
  • Cytochrome P450, Family 2, Subfamily E, Polypeptide 1*2 Allele
Subsets

NCIT_C116977, NCIT_C142800, NCIT_C142799

DesignNote

Ethnicity Association: Asian

Display Name

CYP2E1*2 Allele

Gene Encodes Product

Cytochrome P450 2E1

Legacy Concept Name

CYP2E1_2_Allele

OMIM Number

124040

Preferred Name

CYP2E1*2 Allele

Semantic Type

Gene or Genome

UMLS CUI

C1707233

code

C46029