Terminology Service for NFDI4Health

CYP2D6*35X2 Allele

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Human CYP2D6*35X2 allele is located in the vicinity of 22q13.1 and is approximately 4 kb in length. This allele, an amplification variant form of the CYP2D6 wild-type allele, encodes cytochrome P450 2D6*35 protein. The CYP2D6*35 allele exhibits four SNPs (g.31G>A; g.1661G>C; g.2850C>T; g.4180G>C) that result in three coding changes (V11M; R296C; S486T). The CYP2D6*35X2 allele has two copies of the CYP2D6*35 allelic variant. This duplication increases the enzymatic activity of the cytochrome P450 2D6*35 protein in subjects who carry this allele. [ ]

Term info

Label

CYP2D6*35X2 Allele

Synonyms
  • CYP2D6*35X2
  • CYP2D6*35X2 Allele
  • Cytochrome P450, Family 2, Subfamily D, Polypeptide 6*35X2 Allele
Subsets

NCIT_C116977, NCIT_C142800, NCIT_C142799

DesignNote

Ethnicity Association: Caucasian

Display Name

CYP2D6*35X2 Allele

Gene Encodes Product

Cytochrome P450 2D6

Legacy Concept Name

CYP2D6_35X2_Allele

OMIM Number

124030

Preferred Name

CYP2D6*35X2 Allele

Semantic Type

Gene or Genome

UMLS CUI

C1707220

code

C46054