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CYP2C9
Genomic Map
Back To TopAssay 상세 정보
Species: |
Human | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 601130
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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
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Minor Allele Frequency: |
| 1000Genome | Applied Biosystems® | HapMap | |||||||||
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Global
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Caucasian
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CEPH (CEU)
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EAS
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African American
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YRI (Yoruba) - Not Available | |||||||||
SAS
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Japanese
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JPT (Japanese)
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AFR
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Chinese
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CHB (Han Chinese)
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EUR
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AMR
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| 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 Top추가 정보
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
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Panther Classification:
Gene Ontology Categories:
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