Terminology Service for NFDI4Health

CYP2D6*14 Allele

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Human CYP2D6*14 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*14 protein. The CYP2D6*14 allele exhibits a clinically-relevant SNP (g.1758G>A) that results in a G169R coding change. This alteration in protein sequence decreases the enzymatic activity of the cytochrome P450 2D6*14 protein. [ ]

Term info

Label

CYP2D6*14 Allele

Synonyms
  • CYP2D6*14
  • CYP2D6*14 Allele
  • CYP2D6, G169R
  • CYP2D6, g.1758G>A
  • Cytochrome P450, Family 2, Subfamily D, Polypeptide 6*14 Allele
Subsets

NCIT_C116977, NCIT_C142800, NCIT_C142799

DesignNote

Ethnicity Association: Asian

Display Name

CYP2D6*14 Allele

Gene Encodes Product

Cytochrome P450 2D6

Legacy Concept Name

CYP2D6_14_Allele

OMIM Number

124030

Preferred Name

CYP2D6*14 Allele

PubMedID Primary Reference

10064570, 12089164

Semantic Type

Gene or Genome

UMLS CUI

C1707210

code

C46047