AssayDetailPortlet

DPYD c.2846A>T Novallele Genotyping Assay

Gene symbol

DPYD 

Nucleotide change

c.2846A>T 

Protein change

p.Asp949Val

NCBI 1000 Genomes Browser

rs67376798

Assay catalog number

40036 

Control set catalog number(s)

40408

The DPYD c.2846A>T Novallele Genotyping Assay identifies a single nucleotide change associated with 5-Fluorouracil (5-FU) catabolism. Mutations associated with the DPYD gene may result in hematologic, gastrointestinal, and dermatologic toxicity. 5-FU is the most commonly used chemotherapy drug and commonly exhibits toxicity. DPYD c.2846A>T mutations may also cause dihydropyrimidine dehydrogenase (DPD) deficiency. Severe DPD deficiencies are linked to neurological manifestations such as recurrent seizures, intellectual disabilities, microcephaly, and hypertonia.

Variant information

The DPYD c.2846A>T Novallele Genotyping Assay is used to amplify and identify specific genetic polymorphisms or mutations. This assay provides scientists with a simple way to quickly genotype this locus from isolated human genomic DNA. The assay contains functionally-verified oligonucleotide primers and unlabeled probes necessary for PCR and subsequent allele identification by DNA melting. For Research Use Only. Not for use in diagnostic procedures.

Catalog number

 

40036 

 

Gene symbol

 

DPYD 

Alias

 

Dihydropyrimidine Dehydrogenase, DPD, DHP, DHPDHASE, Dihydrothymine Dehydrogenase, Dihydrouracil Dehydrogenase, Dihydropyrimidine Dehydrogenase[NADP(+)], DHPDHase, EC 1.3.1.2 

Nucleotide change

 

c.2846A>T 

Protein change

 

p.Asp949Val

Allele information

 

 

Application area

 

Pharmacogenetics

Cancer

Neuroscience

Variant type

 

SNP

Cytogenetic location

 

1p21.3

SNP type

 

Missense 

 

NCBI 1000 Genomes Browser

 

rs67376798

dbSNP ID

 

ClinVar

 

Online Mendelian Inheritance in Man (OMIM)

 

 

PharmGKB

 

Drug interaction

 

capecitabine, fluorouracil, tegafur  

Product specifications

The DPYD c.2846A>T Novallele Genotyping Assay is compatible with any thermocycler capable of high-resolution melting (HRM). Each assay comprises a single tube containing the primers and probes optimized to detect the target. Each tube contains 600 µl, which is enough for 166 reactions. The assay is stable for 6 months at 2–8ºC.

Genotyping analysis

The DPYD c.2846A>T Novallele Genotyping Assay identifies a SNP of c.2846A>T. The graphs display the homozygous wild type in black, the heterozygous variant in blue, and the homozygous variant in red. The data were generated using the companion Novallele Control Set.

Resources

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