Terminology Service for NFDI4Health

CYP2D6*7 Allele

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Human CYP2D6*7 allele is located in the vicinity of 22q13.1 and is approximately 4 kb in length. This allele, a variant form of the CYP2D6 wild-type allele, encodes cytochrome P450 2D6*7 protein. The CYP2D6*7 allele exhibits a clinically-relevant SNP (g.2935A>C) that results in a H324P coding change. This alteration in amino acid sequence causes an alteration of the 3D protein structure in close vicinity to the active site that abolishes the enzymatic activity of the cytochrome P450 2D6*7 protein. [ ]

Term info

Label

CYP2D6*7 Allele

Synonyms
  • CYP2D6*7
  • CYP2D6*7 Allele
  • CYP2D6, H324P
  • CYP2D6, g.2935A>C
  • CYP2D6E
  • Cytochrome P450, Family 2, Subfamily D, Polypeptide 6*7 Allele
Subsets

NCIT_C116977, NCIT_C142800, NCIT_C142799

DesignNote

Ethnicity Association: Caucasian; Middle Eastern

Display Name

CYP2D6*7 Allele

Gene Encodes Product

Cytochrome P450 2D6

Legacy Concept Name

CYP2D6_7_Allele

OMIM Number

124030

Preferred Name

CYP2D6*7 Allele

Semantic Type

Gene or Genome

UMLS CUI

C1707229

code

C46042