PrimePCR™ Probe Assay: ATXN2, Human


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

List Price:    $196.00
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Assay Information

Technology:   qPCR
Assay Type:   Probe
Application:   Gene Expression
Unique Assay ID:   qHsaCEP0055725
Assay Design:   exonic
Chromosome Location:   12:111895021-111895148question
Amplicon Length:   98
Splice Variants Targeted:   ENST00000402364 ENST00000382292 ENST00000382298 ENST00000389154 ENST00000389153 ENST00000377617 ENST00000482777 ENST00000535949 ENST00000542287 ENST00000550844 ENST00000550889 ENST00000550104

Gene Information

The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum brain stem and spinal cord. Clinically ADCA has been divided into three groups: ADCA types I-III. Defects in this gene are the cause of spinocerebellar ataxia type 2 (SCA2). SCA2 belongs to the autosomal dominant cerebellar ataxias type I (ADCA I) which are characterized by cerebellar ataxia in combination with additional clinical features like optic atrophy ophthalmoplegia bulbar and extrapyramidal signs peripheral neuropathy and dementia. SCA2 is caused by expansion of a CAG repeat in the coding region of this gene. This locus has been mapped to chromosome 12 and it has been determined that the diseased allele contains 37-50 CAG repeats compared to 17-29 in the normal allele. Longer expansions result in earlier onset of the disease. Alternatively spliced transcript variants encoding different isoforms have been identified but their full length sequence has not been determined. [provided by RefSeq Jan 2010]

Gene Symbol:   ATXN2
Gene Name:   ataxin 2
Aliases:   ATX2, FLJ46772, SCA2, TNRC13
RefSeq:   NG_021216.1 NC_000012.11 NG_011572.1 NT_009775.17
Ensembl:   ENSG00000204842
Entrez:   6311
UniGene:   Hs.76253
Chromosome Mapping:   12q24.1

The below validation information is for the Primer Pair only   Download Validation Data (.pdf)

Products used to generate validation data:

Real-Time PCR Instrument CFX384 Real-Time PCR Detection System
Reverse Transcription Reagent iScript™ Advanced cDNA Synthesis Kit for RT-qPCR
Real-Time PCR Supermix SsoAdvanced™ Universal SYBR® Green Supermix
Experimental Sample qPCR Human Reference Total RNA

Summary Data:

R2 0.999600
y-intercept 36.090000
Efficiency 99

Amplification Plot
Amplification of cDNA generated from universal RNA.

Amplification of cDNA generated from universal RNA.

Melt Peak
Melt curve analysis of above amplification.

Melt curve analysis of above amplification.

Standard Curve
Standard curve generated using 20 million copies of template diluted 10 fold to 20 copies.

Standard curve generated using 20 million copies of template diluted 10 fold to 20 copies.

Number Description Download
6262 PrimePCR Assays: Meeting the MIQE Guidelines by Full Wet-Lab Validation, Rev B Click to download
6263 PrimePCR Pathway Analysis: Pathway Curation and Real-Time PCR Panel Design Strategy, Rev B Click to download
6290 PrimePCR Assays and Panels Brochure, Rev D Click to download
LIT10026370 Instruction Manual, PrimePCR Assays, Panels, and Controls, Rev E Click to download
10039761 PrimePCR™ Assays Quick Guide, Ver B Click to download