Terminology Service for NFDI4Health

CYP2D6*41 Allele

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Human CYP2D6*41 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*41 protein. The CYP2D6*41 allele exhibits clinically-relevant SNPs (g.2850C>T; g.4180G>C) in exons 6 and 9 that result in R296C and S486T coding changes. These alterations in protein sequence decrease the enzymatic activity of the cytochrome P450 2D6*41 protein. [ ]

Term info

Label

CYP2D6*41 Allele

Synonyms
  • CYP2D6*41
  • CYP2D6*41 Allele
  • CYP2D6, R296C, S486T
  • CYP2D6, g.2850C>T, g.4180G>C
  • Cytochrome P450, Family 2, Subfamily D, Polypeptide 6*41 Allele
Subsets

NCIT_C116977, NCIT_C142800, NCIT_C142799

DesignNote

Ethnicity Association: African American; Caucasian

Display Name

CYP2D6*41 Allele

Gene Encodes Product

Cytochrome P450 2D6

Legacy Concept Name

CYP2D6_41_Allele

OMIM Number

124030

Preferred Name

CYP2D6*41 Allele

PubMedID Primary Reference

15289790, 15768052, 11037799

Semantic Type

Gene or Genome

UMLS CUI

C1705362

code

C46058