Terminology Service for NFDI4Health

CYP2D6*9 Allele

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Human CYP2D6*9 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*9 protein. The CYP2D6*9 allele exhibits a deletion of three nucleotides (g.2613delAGA) at the 3' end of exon 5 that results in a K281 deletion during coding. This alteration in protein sequence decreases the enzymatic activity of the cytochrome P450 2D6*9 protein. [ ]

Term info

Label

CYP2D6*9 Allele

Synonyms
  • CYP2D6*9
  • CYP2D6*9 Allele
  • CYP2D6, K281del
  • CYP2D6, g.2613delAGA
  • CYP2D6C
  • Cytochrome P450, Family 2, Subfamily D, Polypeptide 6*9 Allele
Subsets

NCIT_C116977, NCIT_C142800, NCIT_C142799

DesignNote

Ethnicity Association: Asian; Caucasian; Middle Eastern

Display Name

CYP2D6*9 Allele

Gene Encodes Product

Cytochrome P450 2D6

Legacy Concept Name

CYP2D6_9_Allele

OMIM Number

124030

Preferred Name

CYP2D6*9 Allele

PubMedID Primary Reference

8101460, 1844820

Semantic Type

Gene or Genome

UMLS CUI

C1707231

code

C46043