Gene-specific Copy Number Variation Probe-ATXN2
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| Catalog: |
CNVFP-ATXN2-01186 |
| Classification: |
Copy Number Variation |
| Description: |
Our Gene-specific Copy Number Variation Probes usually target the flanks of the target gene (ATXN2). 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: |
ATXN2 Gene-specific copy number variation probes are mainly used to detect the copy number variation related to ATXN2 genes. This product achieves the purpose of detection by hybridizing with the ATXN2 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 2 |
| Gene Summary [Provided by RefSeq] |
This gene belongs to a group of genes that is associated with microsatellite-expansion diseases, a class of neurological and neuromuscular disorders caused by expansion of short stretches of repetitive DNA. The protein encoded by this gene has two globular domains near the N-terminus, one of which contains a clathrin-mediated trans-Golgi signal and an endoplasmic reticulum exit signal. The encoded cytoplasmic protein localizes to the endoplasmic reticulum and plasma membrane, is involved in endocytosis, and modulates mTOR signals, modifying ribosomal translation and mitochondrial function. The N-terminal region of the protein contains a polyglutamine tract of 14-31 residues that can be expanded in the pathogenic state to 32-200 residues. Intermediate length expansions of this tract increase susceptibility to amyotrophic lateral sclerosis, while long expansions of this tract result in spinocerebellar ataxia-2, an autosomal-dominantly inherited, neurodegenerative disorder. Genome-wide association studies indicate that loss-of-function mutations in this gene may be associated with susceptibility to type I diabetes, obesity and hypertension. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016] |
| Gene Symbol |
ATXN2 |
| Location |
12q24.12 |
| Chromosome |
Chromosome12 |
| Coordinates |
This gene maps to 111890017-112037480 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-ATXN2-01186-OR |
573nm |
548nm |
|
| 2 |
RE
|
CNVFP-ATXN2-01186-RE |
599nm |
580nm |
|
| 3 |
GO
|
CNVFP-ATXN2-01186-GO |
551nm |
525nm |
|
| 4 |
GR
|
CNVFP-ATXN2-01186-GR |
515nm |
491nm |
|
| 5 |
AQ
|
CNVFP-ATXN2-01186-AQ |
467nm |
418nm |
|
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