AssayDetailPortlet

TPMT c.238G>C Novallele Genotyping Assay

Gene symbol

TPMT 

Nucleotide change

c.238G>C 

Protein change

p.Ala80Pro

NCBI 1000 Genomes Browser

rs1800462

Assay catalog number

40041 

Control set catalog number(s)

40412

The TPMT c.238G>C Novallele Genotyping Assay identifies a single mutation associated with a common allele, TPMT*2, of the TPMT gene. This mutation, along with others in the TMPT gene, may cause altered thiopurine drug metabolism. This altered drug response results in thiopurine S-methyltransferase deficiency, which is characterized by decreased thiopurine S-methyltransferase activity. This metabolic instability results in hematopoietic toxicity, myelosuppression, and life-threatening infections.

Variant information

The TPMT c.238G>C 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

 

40041 

 

Gene symbol

 

TPMT 

Alias

 

Thiopurine S-Methyltransferase, S-Adenosyl-L-Methionine:Thiopurine S-Methyltransferase, Thiopurine Methyltransferase, EC 2.1.1.67 

Nucleotide change

 

c.238G>C 

Protein change

 

p.Ala80Pro

Allele information

 

TPMT*2 

Application area

 

Pharmacogenetics

Immune disorders

Cancer

Variant type

 

SNP

Cytogenetic location

 

6p22.3

SNP type

 

Missense 

 

NCBI 1000 Genomes Browser

 

rs1800462

dbSNP ID

 

ClinVar

 

Online Mendelian Inheritance in Man (OMIM)

 

 

PharmGKB

 

Drug interaction

 

azathioprine, 6-thioguanine, 6-mercaptopurine, cyclosporine, methotrexate, purine analogues, thioguanine 

Product specifications

The TPMT c.238G>C 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 TPMT c.238G>C Novallele Genotyping Assay identifies a SNP of c.238G>C. 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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