PrimePCR™ ddPCR™ Mutation Assay:RRM2B WT for p.S25G, Human

PrimePCR

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

Info:   80nt amplicon; crosses exon-intron junction; in silico

 
Fluorophore:   HEX
List Price:    $335.00
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Assay Information

Technology:   ddPCR
Assay Type:   Probe
Application:   Mutation Detection in silico design
Unique Assay ID:   dHsaIS2501023
Chromosome Location:   8:103244447-103244569question
Amplicon Length:   80
Restriction Enzymes:   HaeIII

Gene Information

This gene encodes the small subunit of a p53-inducible ribonucleotide reductase. This heterotetrameric enzyme catalyzes the conversion of ribonucleoside diphosphates to deoxyribonucleoside diphosphates. The product of this reaction is necessary for DNA synthesis. Mutations in this gene have been associated with autosomal recessive mitochondrial DNA depletion syndrome autosomal dominant progressive external ophthalmoplegia-5 and mitochondrial neurogastrointestinal encephalopathy. Alternatively spliced transcript variants have been described.[provided by RefSeq Feb 2010]

Gene Symbol:   RRM2B
Gene Name:   ribonucleotide reductase M2 B (TP53 inducible)
Aliases:   DKFZp686M05248, MGC102856, MGC42116, MTDPS8A, MTDPS8B, P53R2
RefSeq:   NC_000008.10 NT_008046.16 NG_016617.1
Ensembl:   ENSG00000048392
Entrez:   50484
UniGene:   Hs.512592
Chromosome Mapping:   8q23.1

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