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CYP2D6*4 Allele

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Human CYP2D6*4 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*4 protein. The CYP2D6*4 allele exhibits a clinically-relevant SNP (g.1846G>A) at the consensus sequence of the splice site of intron 3 that results in a premature stop codon. This alteration yields a truncated cytochrome P450 2D6*4 protein that is enzymatically inactive. [ ]

Term info

Label

CYP2D6*4 Allele

Synonyms
  • CYP2D6(B)
  • CYP2D6*4
  • CYP2D6*4 Allele
  • CYP2D6, K29-1
  • CYP2D6, g.1846G>A
  • CYP2D6B
  • Cytochrome P450, Family 2, Subfamily D, Polypeptide 6*4 Allele
Subsets

NCIT_C116977, NCIT_C142800, NCIT_C142799

DesignNote

Ethnicity Association: Asian; African American; Black African; Caucasian; Middle Eastern

Display Name

CYP2D6*4 Allele

Gene Encodes Product

Cytochrome P450 2D6

Legacy Concept Name

CYP2D6_4_Allele

OMIM Number

124030

Preferred Name

CYP2D6*4 Allele

Semantic Type

Gene or Genome

UMLS CUI

C1707226

code

C45620