Terminology Service for NFDI4Health

CYP2D6*3 Allele

Go to external page http://purl.obolibrary.org/obo/NCIT_C46041


Human CYP2D6*3 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*3 protein. The CYP2D6*3 allele exhibits a single nucleotide deletion (g.2549A>del) that results in a frameshift during protein coding. This alteration abolishes the enzymatic activity of the cytochrome P450 2D6*3 protein. [ ]

Term info

Label

CYP2D6*3 Allele

Synonyms
  • CYP2D6*3
  • CYP2D6*3 Allele
  • CYP2D6, g.2549delA
  • CYP2D6A
  • Cytochrome P450, Family 2, Subfamily D, Polypeptide 6*3 Allele
Subsets

NCIT_C116977, NCIT_C142800, NCIT_C142799

DesignNote

Ethnicity Association: Asian; Caucasian

Display Name

CYP2D6*3 Allele

Legacy Concept Name

CYP2D6_3_Allele

OMIM Number

124030

Preferred Name

CYP2D6*3 Allele

Semantic Type

Gene or Genome

UMLS CUI

C1707222

code

C46041