SH2B3-ATXN2 Fusion FISH Probe
The SH2B3-ATXN2 Fusion FISH Probe is used to confirm a fusion of the SH2B3 and ATXN2 genes. The fusion of the SH2B3 and ATXN2 genes has been associated with Sarcoma. These probes are FISH confirmed on normal peripheral blood in both interphase nuclei and metaphase spreads before shipment. Typical turnaround time for this product is 7-14 days after purchase.
** This product is for in vitro and research use only. This product is not intended for diagnostic use. Please note that both genes fall on the same chromosome and inter-chromosomal detection may be difficult to detect depending on the genes proximity to one another. Please consult our support staff before ordering this product to ensure that the probe can be designed to meet your specific needs.
| SKU | Test Kits | Buffer | Dye Color | Order Now |
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| SH2B3-ATXN2-20-ORGR (Standard Design) | 20 (40 μL) | 200 μL |
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| SH2B3-ATXN2-20-RERE | 20 (40 μL) | 200 μL |
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| SH2B3-ATXN2-20-REOR | 20 (40 μL) | 200 μL |
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| SH2B3-ATXN2-20-REGO | 20 (40 μL) | 200 μL |
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| SH2B3-ATXN2-20-REGR | 20 (40 μL) | 200 μL |
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| SH2B3-ATXN2-20-REAQ | 20 (40 μL) | 200 μL |
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| SH2B3-ATXN2-20-ORRE | 20 (40 μL) | 200 μL |
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| SH2B3-ATXN2-20-OROR | 20 (40 μL) | 200 μL |
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| SH2B3-ATXN2-20-ORGO | 20 (40 μL) | 200 μL |
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| SH2B3-ATXN2-20-ORAQ | 20 (40 μL) | 200 μL |
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| SH2B3-ATXN2-20-GORE | 20 (40 μL) | 200 μL |
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| SH2B3-ATXN2-20-GOOR | 20 (40 μL) | 200 μL |
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| SH2B3-ATXN2-20-GOGO | 20 (40 μL) | 200 μL |
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| SH2B3-ATXN2-20-GOGR | 20 (40 μL) | 200 μL |
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| SH2B3-ATXN2-20-GOAQ | 20 (40 μL) | 200 μL |
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| SH2B3-ATXN2-20-GRRE | 20 (40 μL) | 200 μL |
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| SH2B3-ATXN2-20-GROR | 20 (40 μL) | 200 μL |
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| SH2B3-ATXN2-20-GRGO | 20 (40 μL) | 200 μL |
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| SH2B3-ATXN2-20-GRGR | 20 (40 μL) | 200 μL |
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| SH2B3-ATXN2-20-GRAQ | 20 (40 μL) | 200 μL |
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| SH2B3-ATXN2-20-AQRE | 20 (40 μL) | 200 μL |
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| SH2B3-ATXN2-20-AQOR | 20 (40 μL) | 200 μL |
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| SH2B3-ATXN2-20-AQGO | 20 (40 μL) | 200 μL |
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| SH2B3-ATXN2-20-AQGR | 20 (40 μL) | 200 μL |
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| SH2B3-ATXN2-20-AQAQ | 20 (40 μL) | 200 μL |
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ATXN2 Gene Summary
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 Name: Ataxin 2
Chromosome: CHR12: 111890017 -112037480
Locus: 12q24.12
SH2B3 Gene Summary
This gene encodes a member of the SH2B adaptor family of proteins, which are involved in a range of signaling activities by growth factor and cytokine receptors. The encoded protein is a key negative regulator of cytokine signaling and plays a critical role in hematopoiesis. Mutations in this gene have been associated with susceptibility to celiac disease type 13 and susceptibility to insulin-dependent diabetes mellitus. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2014]
Gene Name: SH2B Adaptor Protein 3
Chromosome: CHR12: 111843751 -111889427
Locus: 12q24.12
Gene Diseases
The SH2B3 ATXN2 Fusion has been associated with the following diseases:
| Disease Name |
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| Sarcoma |
FISH Probe Protocols
| Protocol, Procedure, or Form Name | Last Modified | Download |
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