Terminology Service for NFDI4Health
CYP2C9*6 Allele
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http://purl.obolibrary.org/obo/NCIT_C46014
Human CYP2C9*6 allele is located within 10q24 and is approximately 33 kb in length. This allele, a variant form of the CYP2C9 wild-type allele, encodes cytochrome P450 2C9*6 protein. The CYP2C9*6 allele exhibits a clinically-relevant SNP (c.818delA) in exon 5 that results in a coding frameshift. This alteration in protein sequence severely decreases the enzymatic activity of the cytochrome P450 2C9*6 protein. [ ]
Term info
Label
CYP2C9*6 Allele
Synonyms
- CYP2C9*6
- CYP2C9*6 Allele
- CYP2C9, c.818delA
- Cytochrome P450, Family 2, Subfamily C, Polypeptide 9*6 Allele
Subsets
NCIT_C116977, NCIT_C142800, NCIT_C142799
Contributing Source
CTRP
DesignNote
Ethnicity Association: African American; Black African
Display Name
CYP2C9*6 Allele
GenBank Accession Number
NM_000771
Gene Encodes Product
Cytochrome P450 2C9
Legacy Concept Name
CYP2C9_6_Allele
OMIM Number
601130
Preferred Name
CYP2C9*6 Allele
PubMedID Primary Reference
11740344, 15284535
Semantic Type
Gene or Genome
UMLS CUI
C1707205
code
C46014
Term relations
Subclass of:
- CYP2C9 Gene
- Allele_Has_Abnormality some Frameshift Mutation
- Allele_Plays_Altered_Role_In_Process some Drug Metabolism
- Allele_Plays_Altered_Role_In_Process some Xenobiotic Metabolism
- Allele_Has_Abnormality some Deletion Mutation
- Allele_Has_Activity some Decreased Biochemical Activity
- Allele_In_Chromosomal_Location some 10q24