PrimePCR™ Probe Assay: ATXN3, Human

RT

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

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Assay Information

Technology:   qPCR
Assay Type:   Probe
Application:   Gene Expression
Unique Assay ID:   qHsaCEP0040656
Assay Design:   exonic
Chromosome Location:   14:92537279-92537368question
Amplicon Length:   60
Splice Variants Targeted:   ENST00000542433 ENST00000304636 ENST00000429658 ENST00000309558 ENST00000481100 ENST00000393287 ENST00000502250 ENST00000503767 ENST00000340660 ENST00000532032 ENST00000555381 ENST00000557311 ENST00000554592 ENST00000554672 ENST00000553491 ENST00000556220 ENST00000545170 ENST00000429774 ENST00000237449 ENST00000389394 ENST00000398278

Gene Information

Machado-Joseph disease also known as spinocerebellar ataxia-3 is an autosomal dominant neurologic disorder. The protein encoded by this gene contains (CAG)n repeats in the coding region and the expansion of these repeats from the normal 13-36 to 68-79 is one cause of Machado-Joseph disease. There is a negative correlation between the age of onset and CAG repeat numbers. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq Sep 2009]

Gene Symbol:   ATXN3
Gene Name:   ataxin 3
Aliases:   AT3, ATX3, JOS, MJD, MJD1, SCA3
RefSeq:   NC_000014.8 NT_026437.12 NG_008198.1
Ensembl:   ENSG00000066427
Entrez:   4287
Chromosome Mapping:   14q21

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