NF1-RPTOR Fusion FISH Probe
The NF1-RPTOR Fusion FISH Probe is used to confirm a fusion of the NF1 and RPTOR genes. The fusion of the NF1 and RPTOR 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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| NF1-RPTOR-20-ORGR (Standard Design) | 20 (40 μL) | 200 μL |
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| NF1-RPTOR-20-RERE | 20 (40 μL) | 200 μL |
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| NF1-RPTOR-20-REOR | 20 (40 μL) | 200 μL |
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| NF1-RPTOR-20-REGO | 20 (40 μL) | 200 μL |
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| NF1-RPTOR-20-REGR | 20 (40 μL) | 200 μL |
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| NF1-RPTOR-20-REAQ | 20 (40 μL) | 200 μL |
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| NF1-RPTOR-20-ORRE | 20 (40 μL) | 200 μL |
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| NF1-RPTOR-20-OROR | 20 (40 μL) | 200 μL |
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| NF1-RPTOR-20-ORGO | 20 (40 μL) | 200 μL |
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| NF1-RPTOR-20-ORAQ | 20 (40 μL) | 200 μL |
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| NF1-RPTOR-20-GORE | 20 (40 μL) | 200 μL |
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| NF1-RPTOR-20-GOOR | 20 (40 μL) | 200 μL |
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| NF1-RPTOR-20-GOGO | 20 (40 μL) | 200 μL |
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| NF1-RPTOR-20-GOGR | 20 (40 μL) | 200 μL |
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| NF1-RPTOR-20-GOAQ | 20 (40 μL) | 200 μL |
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| NF1-RPTOR-20-GRRE | 20 (40 μL) | 200 μL |
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| NF1-RPTOR-20-GROR | 20 (40 μL) | 200 μL |
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| NF1-RPTOR-20-GRGO | 20 (40 μL) | 200 μL |
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| NF1-RPTOR-20-GRGR | 20 (40 μL) | 200 μL |
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| NF1-RPTOR-20-GRAQ | 20 (40 μL) | 200 μL |
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| NF1-RPTOR-20-AQRE | 20 (40 μL) | 200 μL |
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| NF1-RPTOR-20-AQOR | 20 (40 μL) | 200 μL |
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| NF1-RPTOR-20-AQGO | 20 (40 μL) | 200 μL |
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| NF1-RPTOR-20-AQGR | 20 (40 μL) | 200 μL |
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| NF1-RPTOR-20-AQAQ | 20 (40 μL) | 200 μL |
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NF1 Gene Summary
This gene product appears to function as a negative regulator of the ras signal transduction pathway. Mutations in this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leukemia and Watson syndrome. The mRNA for this gene is subject to RNA editing (CGA>UGA->Arg1306Term) resulting in premature translation termination. Alternatively spliced transcript variants encoding different isoforms have also been described for this gene. [provided by RefSeq, Jul 2008]
Gene Name: Neurofibromin 1
Chromosome: CHR17: 29421944 -29704695
Locus: 17q11.2
RPTOR Gene Summary
This gene encodes a component of a signaling pathway that regulates cell growth in response to nutrient and insulin levels. The encoded protein forms a stoichiometric complex with the mTOR kinase, and also associates with eukaryotic initiation factor 4E-binding protein-1 and ribosomal protein S6 kinase. The protein positively regulates the downstream effector ribosomal protein S6 kinase, and negatively regulates the mTOR kinase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
Gene Name: Regulatory Associated Protein Of MTOR Complex 1
Chromosome: CHR17: 78518624 -78940173
Locus: 17q25.3
Gene Diseases
The NF1 RPTOR 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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