Terminology Service for NFDI4Health

CYP2D6*17 Allele

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Human CYP2D6*17 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*17 protein. The CYP2D6*17 allele exhibits two clinically-relevant SNPs (g.1023C>T, g.2850C>T) that result in coding changes (T107I, R296C). These alterations decrease the enzymatic activity of the cytochrome P450 2D6*17 protein. [ ]

Term info

Label

CYP2D6*17 Allele

Synonyms
  • CYP2D6*17
  • CYP2D6*17 Allele
  • CYP2D6, T107I, R296C
  • CYP2D6, g.1023C>T, g.2850C>T
  • CYP2D6Z
  • Cytochrome P450, Family 2, Subfamily D, Polypeptide 6*17 Allele
Subsets

NCIT_C116977, NCIT_C142800, NCIT_C142799

DesignNote

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

Display Name

CYP2D6*17 Allele

Gene Encodes Product

Cytochrome P450 2D6

Legacy Concept Name

CYP2D6_17_Allele

OMIM Number

124030

Preferred Name

CYP2D6*17 Allele

PubMedID Primary Reference

9415713, 8971426

Semantic Type

Gene or Genome

UMLS CUI

C1707213

code

C45618