Terminology Service for NFDI4Health
CYP2D6*40 Allele
Go to external page
http://purl.obolibrary.org/obo/NCIT_C46057
Human CYP2D6*40 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*40 protein. The CYP2D6*40 allele exhibits an 18 nucleotide insertion (g.1863insTTTCGCCCCTTTCGCCCC) that abolishes the enzymatic activity of the cytochrome P450 2D6*40 protein. [ ]
Term info
Label
CYP2D6*40 Allele
Synonyms
- CYP2D6*40
- CYP2D6*40 Allele
- CYP2D6, g.1863insTTTCGCCCCTTTCGCCCC
- Cytochrome P450, Family 2, Subfamily D, Polypeptide 6*40 Allele
Subsets
NCIT_C116977, NCIT_C142800, NCIT_C142799
Contributing Source
CTRP
DesignNote
Ethnicity Association: African American
Display Name
CYP2D6*40 Allele
GenBank Accession Number
NM_000106
Legacy Concept Name
CYP2D6_40_Allele
OMIM Number
124030
Preferred Name
CYP2D6*40 Allele
PubMedID Primary Reference
12152006
Semantic Type
Gene or Genome
UMLS CUI
C1707223
code
C46057