Gene:  ATXN1, Human

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PrimePCR Primer Assays for Real-Time PCR oligo primer pair gene expression assay target

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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. ADCAI is genetically heterogeneous with five genetic loci designated spinocerebellar ataxia (SCA) 1 2 3 4 and 6 being assigned to five different chromosomes. ADCAII which always presents with retinal degeneration (SCA7) and ADCAIII often referred to as the `pure' cerebellar syndrome (SCA5) are most likely homogeneous disorders. Several SCA genes have been cloned and shown to contain CAG repeats in their coding regions. ADCA is caused by the expansion of the CAG repeats producing an elongated polyglutamine tract in the corresponding protein. The expanded repeats are variable in size and unstable usually increasing in size when transmitted to successive generations. The function of the ataxins is not known. This locus has been mapped to chromosome 6 and it has been determined that the diseased allele contains 41-81 CAG repeats compared to 6-39 in the normal allele and is associated with spinocerebellar ataxia type 1 (SCA1). At least two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq Jan 2010]

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PrimePCR™ SYBR® Green Assay: ATXN1, Human
ataxin 1

Assay Type: SYBR® Green
Assay Design: Exonic
Application: Gene Expression
Unique Assay ID: qHsaCED0004240
Info:   Same primer pair as used in probe assay qHsaCEP0024972
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PrimePCR™ Probe Assay: ATXN1, Human
ataxin 1

Assay Type: Probe
Assay Design: Exonic
Application: Gene Expression
Unique Assay ID: qHsaCEP0024972
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PrimePCR™ ddPCR™ Copy Number Assay: ATXN1, Human
ataxin 1

Assay Type: Probe
Application: Copy Number Variation
Unique Assay ID: dHsaCP1000451
Info:   70nt amplicon; exonic
 
Fluorophore:   FAM
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    Related pathways not available
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
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