AssayDetailPortlet

ITPA c.124+21A>C Novallele Genotyping Assay

Gene symbol

ITPA 

Nucleotide change

c.124+21A>C 

Protein change

NCBI 1000 Genomes Browser

rs7270101

Assay catalog number

40293 

Control set catalog number(s)

40649

The ITPA c.124+21A>C Novallele Genotyping Assay identifies a single nucleotide change of the ITPA gene. The ITPA gene encodes for inosine triphosphatase (ITPA or ITPase), which is found in cytoplasm. Research demonstrates that mutations of the ITPA gene may be linked to abnormal accumulation of inosine triphosphate (ITP) and red blood cells as a result of inosine triphosphatase deficiency.

Variant information

The ITPA c.124+21A>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 necessary for PCR and subsequent allele identification by DNA melting. For Research Use Only. Not for use in diagnostic procedures.

Catalog number

 

40293 

 

Gene symbol

 

ITPA 

Alias

 

Inosine Triphosphatase (Nucleoside Triphosphate Pyrophosphatase), C20orf37, Non-Canonical Purine NTP Pyrophosphatase, Non-Standard Purine NTP Pyrophosphatase, Nucleoside-Triphosphate Diphosphatase, Putative Oncogene Protein Hlc14-06-P, ITPase, NTPase, EC 3.6.1.19, HLC14-06-P, dJ794I6.3, Inosine Triphosphatase-A, Inosine Triphosphate Pyrophosphatase, Inosine Triphosphate Pyrophosphohydrolase, Inosine Triphosphatase, Nucleoside-Triphosphate Pyrophosphatase, EC 3.6.1 

Nucleotide change

 

c.124+21A>C 

Protein change

 

Allele information

 

ITPA, IVS2DS, A-C, +21 

Application area

 

Inherited disease

Neuroscience

Pharmacogenetics

Variant type

 

SNP

Cytogenetic location

 

20p13

SNP type

 

Missense 

 

NCBI 1000 Genomes Browser

 

rs7270101

dbSNP ID

 

ClinVar

 

Online Mendelian Inheritance in Man (OMIM)

 

 

PharmGKB

 

Drug interaction

 

interferon alfa-2b, recombinant 

Product specifications

The ITPA c.124+21A>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 ITPA c.124+21A>C Novallele Genotyping Assay identifies a SNP of c.124+21A>C. The graph displays 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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