PrimePCR™ ddPCR™ Mutation Assay:ASXL1 p.R1068*, 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:   dHsaIS2504848
Chromosome Location:   20:31023656-31023778question
Amplicon Length:   65
Reference Assays:  
Restriction Enzymes:   HaeIII

Gene Information

This gene is similar to the Drosophila additional sex combs gene which encodes a chromatin-binding protein required for normal determination of segment identity in the developing embryo. The protein is a member of the Polycomb group of proteins which are necessary for the maintenance of stable repression of homeotic and other loci. The protein is thought to disrupt chromatin in localized areas enhancing transcription of certain genes while repressing the transcription of other genes. The protein encoded by this gene functions as a ligand-dependent co-activator for retinoic acid receptor in cooperation with nuclear receptor coactivator 1. Mutations in this gene are associated with myelodysplastic syndromes and chronic myelomonocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq Sep 2009]

Gene Symbol:   ASXL1
Gene Name:   additional sex combs like 1 (Drosophila)
Aliases:   KIAA0978, MGC117280, MGC71111
RefSeq:   NC_000020.10 NT_011362.10 NG_027868.1
Ensembl:   ENSG00000171456
Entrez:   171023
UniGene:   Hs.374043
Chromosome Mapping:   20q11.1

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