PrimePCR™ ddPCR™ Mutation Assay:IDH1 p.R132S, Human


ddPCR probe assay designed for mutation detection. Probe assays consist of unlabeled PCR primers and a dual labeled fluorescent probe.

Info:   78nt amplicon; crosses exon-intron junction; in silico

Fluorophore:   FAM
List Price:    $335.00
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Assay Information

Technology:   ddPCR
Assay Type:   Probe
Application:   Mutation Detection in silico design
Unique Assay ID:   dHsaIS2504792
Chromosome Location:   2:209113052-209113174question
Amplicon Length:   78
Reference Assays:  
Restriction Enzymes:   HaeIII

Gene Information

Isocitrate dehydrogenases catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. These enzymes belong to two distinct subclasses one of which utilizes NAD(+) as the electron acceptor and the other NADP(+). Five isocitrate dehydrogenases have been reported: three NAD(+)-dependent isocitrate dehydrogenases which localize to the mitochondrial matrix and two NADP(+)-dependent isocitrate dehydrogenases one of which is mitochondrial and the other predominantly cytosolic. Each NADP(+)-dependent isozyme is a homodimer. The protein encoded by this gene is the NADP(+)-dependent isocitrate dehydrogenase found in the cytoplasm and peroxisomes. It contains the PTS-1 peroxisomal targeting signal sequence. The presence of this enzyme in peroxisomes suggests roles in the regeneration of NADPH for intraperoxisomal reductions such as the conversion of 2 4-dienoyl-CoAs to 3-enoyl-CoAs as well as in peroxisomal reactions that consume 2-oxoglutarate namely the alpha-hydroxylation of phytanic acid. The cytoplasmic enzyme serves a significant role in cytoplasmic NADPH production. [provided by RefSeq Jul 2008]

Gene Symbol:   IDH1
Gene Name:   isocitrate dehydrogenase 1 (NADP+), soluble
RefSeq:   NC_000002.11 NG_023319.1 NT_005403.17
Ensembl:   ENSG00000138413
Entrez:   3417
UniGene:   Hs.593422
Chromosome Mapping:   2q33.3

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