PrimePCR™ ddPCR™ Expression Probe Assay: UBE3A, Human


ddPCR probe assay designed for gene expression analysis. Probe assays consist of unlabeled PCR primers and a dual labeled fluorescent probe.

Info:   HEX; Same primer pair and probe as used in qPCR assay qHsaCIP0030373; Intron-spanning

Fluorophore:   HEX
List Price:    $201.00
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Assay Information

Technology:   ddPCR
Assay Type:   Probe
Application:   Gene Expression
Unique Assay ID:   dHsaCPE5054045
Chromosome Location:   15:25605557-25615763question
Amplicon Length:   139

Gene Information

This gene encodes an E3 ubiquitin-protein ligase part of the ubiquitin protein degradation system. This imprinted gene is maternally expressed in brain and biallelically expressed in other tissues. Maternally inherited deletion of this gene causes Angelman Syndrome characterized by severe motor and intellectual retardation ataxia hypotonia epilepsy absence of speech and characteristic facies. The protein also interacts with the E6 protein of human papillomavirus types 16 and 18 resulting in ubiquitination and proteolysis of tumor protein p53. Alternative splicing of this gene results in three transcript variants encoding three isoforms with different N-termini. Additional transcript variants have been described but their full length nature has not been determined. [provided by RefSeq Jul 2008]

Gene Symbol:   UBE3A
Gene Name:   ubiquitin protein ligase E3A
Aliases:   ANCR, AS, E6-AP, EPVE6AP, FLJ26981, HPVE6A
RefSeq:   NC_000015.9 NG_002690.1 NT_026446.14 NG_009268.1
Ensembl:   ENSG00000114062
Entrez:   7337
UniGene:   Hs.598862
Chromosome Mapping:   15q11.2

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