Terminology Service for NFDI4Health
CYP2D6*8 Allele
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http://purl.obolibrary.org/obo/NCIT_C45623
Human CYP2D6*8 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*8 protein. The CYP2D6*8 allele exhibits a clinically-relevant SNP (g.1758G>T) in exon 3 that generates a stop codon. This alteration yields a truncated cytochrome P450 2D6*8 protein that is enzymatically inactive. [ ]
Term info
Label
CYP2D6*8 Allele
Synonyms
- CYP2D6*8
- CYP2D6*8 Allele
- CYP2D6, g.1758G>T
- CYP2D6G
- Cytochrome P450, Family 2, Subfamily D, Polypeptide 6*8 Allele
Subsets
NCIT_C116977, NCIT_C142800, NCIT_C142799
Contributing Source
CTRP
DesignNote
Ethnicity Association: Caucasian
Display Name
CYP2D6*8 Allele
GenBank Accession Number
NM_000106
Gene Encodes Product
Cytochrome P450 2D6
Legacy Concept Name
CYP2D6_8_Allele
OMIM Number
124030
Preferred Name
CYP2D6*8 Allele
PubMedID Primary Reference
8530011
Semantic Type
Gene or Genome
UMLS CUI
C1707230
code
C45623
Term relations
Subclass of:
- CYP2D6 Gene
- Allele_Plays_Altered_Role_In_Process some Drug Metabolism
- Allele_In_Chromosomal_Location some 22q13.1
- Allele_Plays_Altered_Role_In_Process some Xenobiotic Metabolism
- Allele_Has_Abnormality some Protein Truncation Abnormality
- Allele_Has_Abnormality some Transversion Mutation
- Allele_Has_Activity some Absence of Biochemical Activity
- Allele_Has_Abnormality some Guanosine to Thymidine Transversion Abnormality