Terminology Service for NFDI4Health

CYP2D6*38 Allele

Go to external page http://purl.obolibrary.org/obo/NCIT_C46056


Human CYP2D6*38 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*38 protein. The CYP2D6*38 allele exhibits a four nucleotide deletion (g.2587delGACT) that results in a frameshift during protein coding. This alteration abolishes the enzymatic activity of the cytochrome P450 2D6*38 protein. [ ]

Term info

Label

CYP2D6*38 Allele

Synonyms
  • CYP2D6*38
  • CYP2D6*38 Allele
  • CYP2D6, N2
  • CYP2D6, g.2587delGACT
  • Cytochrome P450, Family 2, Subfamily D, Polypeptide 6*38 Allele
Subsets

NCIT_C116977, NCIT_C142800, NCIT_C142799

Display Name

CYP2D6*38 Allele

Legacy Concept Name

CYP2D6_38_Allele

OMIM Number

124030

Preferred Name

CYP2D6*38 Allele

Semantic Type

Gene or Genome

UMLS CUI

C1707221

code

C46056