PrimePCR™ ddPCR™ Mutation Assay:WHSC1 p.E1099K, Human


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

Info:   65nt amplicon; exonic; 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:   dHsaIS2506232
Chromosome Location:   4:1962740-1962862question
Amplicon Length:   65
Reference Assays:  
Restriction Enzymes:   HaeIII

Gene Information

This gene encodes a protein that contains four domains present in other developmental proteins: a PWWP domain an HMG box a SET domain and a PHD-type zinc finger. It is expressed ubiquitously in early development. Wolf-Hirschhorn syndrome (WHS) is a malformation syndrome associated with a hemizygous deletion of the distal short arm of chromosome 4. This gene maps to the 165 kb WHS critical region and has also been involved in the chromosomal translocation t(4;14)(p16.3;q32.3) in multiple myelomas. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. Some transcript variants are nonsense-mediated mRNA (NMD) decay candidates hence not represented as reference sequences. [provided by RefSeq Jul 2008]

Gene Symbol:   WHSC1
Gene Name:   Wolf-Hirschhorn syndrome candidate 1
Aliases:   FLJ23286, KIAA1090, MGC176638, MMSET, NSD2, REIIBP, TRX5, WHS
RefSeq:   NC_000004.11 NG_009232.1 NG_009269.1 NT_006051.18
Ensembl:   ENSG00000109685
Entrez:   7468
UniGene:   Hs.113876
Chromosome Mapping:   4p16.3

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