PrimePCR™ ddPCR™ Mutation Assay:VHL WT for p.S183*, Human


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

Info:   76nt amplicon; exonic; 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:   dHsaIS2500771
Chromosome Location:   3:10191494-10191616question
Amplicon Length:   76
Restriction Enzymes:   HaeIII

Gene Information

Von Hippel-Lindau syndrome (VHL) is a dominantly inherited familial cancer syndrome predisposing to a variety of malignant and benign tumors. A germline mutation of this gene is the basis of familial inheritance of VHL syndrome. The protein encoded by this gene is a component of the protein complex that includes elongin B elongin C and cullin-2 and possesses ubiquitin ligase E3 activity. This protein is involved in the ubiquitination and degradation of hypoxia-inducible-factor (HIF) which is a transcription factor that plays a central role in the regulation of gene expression by oxygen. RNA polymerase II subunit POLR2G/RPB7 is also reported to be a target of this protein. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq Jul 2008]

Gene Symbol:   VHL
Gene Name:   von Hippel-Lindau tumor suppressor
Aliases:   HRCA1, RCA1, VHL1
RefSeq:   NC_000003.11 NG_008212.3 NT_022517.18
Ensembl:   ENSG00000134086
Entrez:   7428
UniGene:   Hs.517792
Chromosome Mapping:   3p25.3

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