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

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PrimePCR Primer Assays for Real-Time PCR oligo primer pair tube for SYBR Green gene expression

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:   FAM
List Price:    $325.00
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Assay Information

Technology:   ddPCR
Assay Type:   Probe
Application:   Mutation Detection in silico design
Unique Assay ID:   dHsaIS2501022
Chromosome Location:   8:103244447-103244569question
Amplicon Length:   80
Reference Assays:   RRM2B(dHsaIS2501023)
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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