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See other CYP2C19 GT Assays ›
SNP ID:
rs4244285
Gene
CYP2C19
Gene Name
Set Membership:
> HapMap > DME > Validated > Inventoried
Chromosome Location:
Chr.10: 94781859 - 94781859 on Build GRCh38
Polymorphism:
A/G, Transition substitution
Context Sequence [VIC/FAM]:

TTCCCACTATCATTGATTATTTCCC[A/G]GGAACCCATAACAAATTACTTAAAA

Assay ID C__25986767_70
Size VIC-FAM | 150 rxns
Availability Inventoried
Catalog # 4362691
Price
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Assay Details



Species:

 Human

dbSNP Submissions:

 NA

Phenotype:

 MIM: 124020

Literature Links:

 CYP2C19 PubMed Links

Allele Nomenclature:

 CYP2C19*2A,c.681G>A CYP2C19*2A,g.19154G>A CYP2C19*2B,c.681G>A CYP2C19*2B,g.19154G>A CYP2C19*2C,c.681G>A CYP2C19*2C,g.19154G>A

Minor Allele Frequency:
1000Genome Applied Biosystems® HapMap
Global
A (0.22)
(0.78)
Caucasian
A (0.14)
(0.86)
CEPH (CEU)
A (0.16)
(0.84)
EAS
A (0.31)
(0.69)
African American
A (0.10)
(0.90)
YRI (Yoruba)
A (0.14)
(0.86)
SAS
A (0.36)
(0.64)
Japanese
A (0.19)
(0.81)
JPT (Japanese)
A (0.28)
(0.72)
AFR
A (0.17)
(0.83)
Chinese
A (0.32)
(0.68)
CHB (Han Chinese)
A (0.26)
(0.74)
EUR
A (0.15)
(0.85)
AMR
A (0.11)
(0.89)
CYP2C19 - cytochrome P450 family 2 subfamily C member 19
Transcript Accession SNP Location SNP Type Observed Codons Observed Amino Acid Protein ID
NM_000769.2 706 Silent Mutation CCA,CCG P,P 227 NP_000760.1

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More Information


Important Information

Assay C__25986767_70 detects the polymorphic CYP2C19*2 681G>A SNP, which is adjacent to the rare CYP2C19*10 c.680C>T SNP that is detected by assay C__30634128_10. These two SNP assays can be used to detect the 3 possible haplotypes described for this locus (www.pharmvar.org/gene/CYP2C19; minor alleles 680T and 681A alleles 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__30634128_10 interrogates CYP2C19*10 c.680C>T SNP (rs6413438).

Set Membership:

 HapMap DME Validated Inventoried

Panther Classification:

Gene Ontology Categories:

Function(s) Process(es)


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