Terminology Service for NFDI4Health
JSON

CYP2D6*12 Allele

Go to external page http://purl.obolibrary.org/obo/NCIT_C46045

Human CYP2D6*12 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*12 protein. The CYP2D6*12 allele exhibits a clinically-relevant SNP (g.124G>A) in exon 1 that results in a G42R coding change. This alteration in protein sequence abolishes the enzymatic activity of the cytochrome P450 2D6*12 protein. [ ]

Term info

Label

CYP2D6*12 Allele

Synonyms
  • CYP2D6*12
  • CYP2D6*12 Allele
  • CYP2D6, G42R
  • CYP2D6, g.124G>A
  • Cytochrome P450, Family 2, Subfamily D, Polypeptide 6*12 Allele
Subsets

NCIT_C116977, NCIT_C142800, NCIT_C142799

DesignNote

Ethnicity Association: Caucasian

Display Name

CYP2D6*12 Allele

Gene Encodes Product

Cytochrome P450 2D6

Legacy Concept Name

CYP2D6_12_Allele

OMIM Number

124030

Preferred Name

CYP2D6*12 Allele

Semantic Type

Gene or Genome

UMLS CUI

C1707208

code

C46045