D6S504E FISH Probe
The D6S504E FISH probe is designed to hybridize to the D6S504E gene and is primarily used for detecting amplifications and deletions associated with the gene. This probe is FISH confirmed on normal peripheral blood metaphase spreads and interphase nuclei. The probe can be labeled in one of five colors. Each probe is sold in a 20 test kit (approximately 20 slides - 22x22 mm area) and includes hybridization buffer. Please note that due to design optimizations, prices are subject to change.
** This product is for in vitro and research use only. This product is not intended for diagnostic use.
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| ATXN1-20-OR (Standard Design) | 20 (40 μL) | 200 μL |  |
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| ATXN1-20-RE | 20 (40 μL) | 200 μL |  |
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| ATXN1-20-GO | 20 (40 μL) | 200 μL |  |
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| ATXN1-20-GR | 20 (40 μL) | 200 μL |  |
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| ATXN1-20-AQ | 20 (40 μL) | 200 μL |  |
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| ATXN1-20-DIG | 20 (40 μL) | 200 μL |  |
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| ATXN1-20-BIO | 20 (40 μL) | 200 μL |  |
Gene Summary
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 40-83 CAG repeats, compared to 6-39 in the normal allele, and is associated with spinocerebellar ataxia type 1 (SCA1). Alternative splicing results in multiple transcript variants, with one variant encoding multiple distinct proteins, ATXN1 and Alt-ATXN1, due to the use of overlapping alternate reading frames. [provided by RefSeq, Nov 2017]
Gene Details
Gene Symbol: ATXN1
Gene Name: Ataxin 1
Chromosome: CHR6: 16299342-16761721
Locus: 6p22.3
FISH Probe Protocols
| Protocol, Procedure, or Form Name | Last Modified | Download |
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Customer Publications
Product Details
Product: D6S504E FISH Probe
Test Kits: 20 (40 μL)
ISH Buffer: 200 μL
SKU: ATXN1-20-OR
Material Safety Data Sheet: MSDS.pdf
Turnaround Time: 7-10 Business Days
Shipping Time: 1-2 Day Expedited Shipping