Terminology Service for NFDI4Health

CYP2D6*21 Allele

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Human CYP2D6*21 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*21 protein. The CYP2D6*21 allele exhibits a single nucleotide insertion (g.2573insC) in exon 5 that results in a frameshift and generates a stop codon 17 bp downstream of the insertion site. This alteration abolishes the enzymatic activity of the cytochrome P450 2D6*21 protein. [ ]

Term info

Label

CYP2D6*21 Allele

Synonyms
  • CYP2D6*21
  • CYP2D6*21 Allele
  • CYP2D6, g.2573insC
  • Cytochrome P450, Family 2, Subfamily D, Polypeptide 6*21 Allele
Subsets

NCIT_C116977, NCIT_C142800, NCIT_C142799

DesignNote

Ethnicity Association: Asian

Display Name

CYP2D6*21 Allele

Legacy Concept Name

CYP2D6_21_Allele

OMIM Number

124030

Preferred Name

CYP2D6*21 Allele

Semantic Type

Gene or Genome

UMLS CUI

C1707218

code

C46053