Search
LOADING 
CYP2C9
Genomic Map
Back To TopAssay Details
Species: |
Human | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 601130
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Literature Links: |
CYP2C9 PubMed Links | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
CYP2C9*18,c.1075A>C
CYP2C9*18,g.42614A>C
CYP2C9*3A,c.1075A>C
CYP2C9*3A,g.42614A>C
CYP2C9*3B,c.1075A>C
CYP2C9*3B,g.42614A>C
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Minor Allele Frequency: |
| 1000Genome | Applied Biosystems® | HapMap | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Global
|
Caucasian
|
CEPH (CEU)
|
|||||||||
EAS
|
African American
|
YRI (Yoruba) - Not Available | |||||||||
SAS
|
Japanese
|
JPT (Japanese)
|
|||||||||
AFR
|
Chinese
|
CHB (Han Chinese)
|
|||||||||
EUR
|
|||||||||||
AMR
|
| CYP2C9 - cytochrome P450 family 2 subfamily C member 9 | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_000771.3 | 1100 | Missense Mutation | ATT,CTT | I,L 359 | NP_000762.2 | |
| XM_017015758.1 | 1100 | Missense Mutation | ATT,CTT | I,L 359 | XP_016871247.1 | |
Back To TopMore Information
Important Information
Assay C__27104892_10 detects the highly polymorphic CYP2C9*3,*18 c.1075A>C SNP, which is adjacent to the rare CYP2C9*4 c. 1076T>C SNP that is detected by assay C__30634131_20. These two SNP assays can be used to detect the 3 possible haplotypes described for this locus (www.pharmvar.org/gene/CYP2C9; minor alleles 1076C and 1075C do not occur together in a haplotype). Run both assays separately on the same samples and analyze data as described in the PGx Experiments User Guide (Pub. # MAN0009612) Chapter 5 section 'TaqMan DME genotyping assays to triallelic SNPs and adjacent SNP targets'.
Assay C__30634131_20 interrogates the CYP2C9*4 c. 1076T>C SNP (rs56165452).Set Membership: |
HapMap
DME
Validated
Inventoried
|
Panther Classification:
Gene Ontology Categories:
Back To Top