Terminology Service for NFDI4Health
CYP2C9*11 Allele
Go to external page
http://purl.obolibrary.org/obo/NCIT_C46016
Human CYP2C9*11 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*11 protein. The CYP2C9*11 allele exhibits a clinically-relevant SNP (c.1003C>T) in exon 7 that results in a R335W coding change. This alteration in protein sequence severely decreases the enzymatic activity of the cytochrome P450 2C9*11 protein. [ ]
Term info
Label
CYP2C9*11 Allele
Synonyms
- CYP2C9*11
- CYP2C9*11 Allele
- CYP2C9, R335W
- CYP2C9, c.1003C>T
- Cytochrome P450, Family 2, Subfamily C, Polypeptide 9*11 Allele
Subsets
NCIT_C116977, NCIT_C142800, NCIT_C142799
Contributing Source
CTRP
DesignNote
Ethnicity Association: Black African
Display Name
CYP2C9*11 Allele
GenBank Accession Number
NM_000771
Gene Encodes Product
Cytochrome P450 2C9
Legacy Concept Name
CYP2C9_11_Allele
OMIM Number
601130
Preferred Name
CYP2C9*11 Allele
PubMedID Primary Reference
11926893, 15608560, 15284535
Semantic Type
Gene or Genome
UMLS CUI
C1707197
code
C46016
Term relations
Subclass of:
- CYP2C9 Gene
- Allele_Plays_Altered_Role_In_Process some Drug Metabolism
- Allele_Plays_Altered_Role_In_Process some Xenobiotic Metabolism
- Allele_Has_Abnormality some Cytosine to Thymidine Transition Abnormality
- Allele_Has_Activity some Decreased Biochemical Activity
- Allele_Has_Abnormality some Transition Mutation
- Allele_In_Chromosomal_Location some 10q24