Terminology Service for NFDI4Health

CYP2D6*6 Allele

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Human CYP2D6*6 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*6 protein. The CYP2D6*6 allele exhibits a single nucleotide deletion (g.1707delT) in exon 3 that results in a frameshift and generates a stop codon located one codon after the deletion. This alteration yields a truncated CYP2D6*6 protein that is enzymatically inactive. [ ]

Term info

Label

CYP2D6*6 Allele

Synonyms
  • CYP2D6*6
  • CYP2D6*6 Allele
  • CYP2D6, g.1707delT
  • CYP2D6T
  • Cytochrome P450, Family 2, Subfamily D, Polypeptide 6*6 Allele
Subsets

NCIT_C116977, NCIT_C142800, NCIT_C142799

DesignNote

Ethnicity Association: Caucasian; Middle Eastern

Display Name

CYP2D6*6 Allele

Gene Encodes Product

Cytochrome P450 2D6

Legacy Concept Name

CYP2D6_6_Allele

OMIM Number

124030

Preferred Name

CYP2D6*6 Allele

Semantic Type

Gene or Genome

UMLS CUI

C1707228

code

C45622