Gene-specific Copy Number Variation Probe-ATXN1
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| Catalog: |
CNVFP-ATXN1-01190 |
| Classification: |
Copy Number Variation |
| Description: |
Our Gene-specific Copy Number Variation Probes usually target the flanks of the target gene (ATXN1). The product usually consists of a combination of reagents, which consists of a probe with a selected dye color and a hybridization reagent. We provide CNV FISH Probes with a variety of dye color combinations to meet various challenges. Probe products not only provide some classic color combinations but also provide customized probe services. |
| Application: |
ATXN1 Gene-specific copy number variation probes are mainly used to detect the copy number variation related to ATXN1 genes. This product achieves the purpose of detection by hybridizing with the ATXN1 gene. Due to this design method, our probe products can detect the amplification and deletion of target genes on chromosomes through FISH. |
| Category: |
Copy Number Variation |
| Probe Kits Volume (µL): |
40 μL |
| Quantity: |
20 Tests |
| Hybridization Solution (µL): |
200 μL |
| Turnaround Time: |
7-10 Business Days |
| Shipping Time: |
1-2 Day Expedited Shipping |
| Storage Conditions: |
Store at -20℃ and avoid light; |
| Shipping Conditions: |
-20℃ |
Gene Details
| Gene Name |
Ataxin 1 |
| Gene Summary [Provided by RefSeq] |
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 Symbol |
ATXN1 |
| Location |
6p22.3 |
| Chromosome |
Chromosome6 |
| Coordinates |
This gene maps to 16299342-16761721 in GRCh37 coordinates. |
| Species |
Human |
Dye Colors:
OR
RE
GO
GR
AQ
Order Sheet
| Number |
Dye Color |
Order Name |
Absorbance Maximum |
Emission Maximum |
Add to Cart |
| 1 |
OR
|
CNVFP-ATXN1-01190-OR |
573nm |
548nm |
|
| 2 |
RE
|
CNVFP-ATXN1-01190-RE |
599nm |
580nm |
|
| 3 |
GO
|
CNVFP-ATXN1-01190-GO |
551nm |
525nm |
|
| 4 |
GR
|
CNVFP-ATXN1-01190-GR |
515nm |
491nm |
|
| 5 |
AQ
|
CNVFP-ATXN1-01190-AQ |
467nm |
418nm |
|
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