About: CYP2E1*2 Allele     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • CYP2E1*2 Allele
rdfs:subClassOf
OMIM_Number
  • 124040
GenBank_Accession_Number
  • NM_000773
Semantic_Type
  • Gene or Genome
Preferred_Name
  • CYP2E1*2 Allele
PubMedID_Primary_Reference
  • 9058590
UMLS_CUI
  • C1707233
Legacy_Concept_Name
  • CYP2E1_2_Allele
FULL_SYN
  • Cytochrome P450, Family 2, Subfamily E, Polypeptide 1*2 AlleleSYNCI
  • CYP2E1, R76HSYNCI
  • CYP2E1*2 AllelePTNCI
  • CYP2E1, g.1132G>ASYNCI
  • CYP2E1*2SYNCI
Gene_Encodes_Product
  • Cytochrome P450 2E1
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.NCI
DesignNote
  • Ethnicity Association: Asian
code
  • C46029
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