NPHP4-CDKN2A Fusion FISH Probe
The NPHP4-CDKN2A Fusion FISH Probe is used to confirm a fusion of the NPHP4 and CDKN2A genes. The fusion of the NPHP4 and CDKN2A genes has been associated with Skin Cutaneous Melanoma. 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.
| SKU | Test Kits | Buffer | Dye Color | Order Now |
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| NPHP4-CDKN2A-20-ORGR (Standard Design) | 20 (40 μL) | 200 μL |
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| NPHP4-CDKN2A-20-RERE | 20 (40 μL) | 200 μL |
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| NPHP4-CDKN2A-20-REOR | 20 (40 μL) | 200 μL |
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| NPHP4-CDKN2A-20-REGO | 20 (40 μL) | 200 μL |
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| NPHP4-CDKN2A-20-REGR | 20 (40 μL) | 200 μL |
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| NPHP4-CDKN2A-20-REAQ | 20 (40 μL) | 200 μL |
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| NPHP4-CDKN2A-20-ORRE | 20 (40 μL) | 200 μL |
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| NPHP4-CDKN2A-20-OROR | 20 (40 μL) | 200 μL |
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| NPHP4-CDKN2A-20-ORGO | 20 (40 μL) | 200 μL |
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| NPHP4-CDKN2A-20-ORAQ | 20 (40 μL) | 200 μL |
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| NPHP4-CDKN2A-20-GORE | 20 (40 μL) | 200 μL |
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| NPHP4-CDKN2A-20-GOOR | 20 (40 μL) | 200 μL |
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| NPHP4-CDKN2A-20-GOGO | 20 (40 μL) | 200 μL |
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| NPHP4-CDKN2A-20-GOGR | 20 (40 μL) | 200 μL |
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| NPHP4-CDKN2A-20-GOAQ | 20 (40 μL) | 200 μL |
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| NPHP4-CDKN2A-20-GRRE | 20 (40 μL) | 200 μL |
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| NPHP4-CDKN2A-20-GROR | 20 (40 μL) | 200 μL |
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| NPHP4-CDKN2A-20-GRGO | 20 (40 μL) | 200 μL |
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| NPHP4-CDKN2A-20-GRGR | 20 (40 μL) | 200 μL |
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| NPHP4-CDKN2A-20-GRAQ | 20 (40 μL) | 200 μL |
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| NPHP4-CDKN2A-20-AQRE | 20 (40 μL) | 200 μL |
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| NPHP4-CDKN2A-20-AQOR | 20 (40 μL) | 200 μL |
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| NPHP4-CDKN2A-20-AQGO | 20 (40 μL) | 200 μL |
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| NPHP4-CDKN2A-20-AQGR | 20 (40 μL) | 200 μL |
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| NPHP4-CDKN2A-20-AQAQ | 20 (40 μL) | 200 μL |
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CDKN2A Gene Summary
This gene generates several transcript variants which differ in their first exons. At least three alternatively spliced variants encoding distinct proteins have been reported, two of which encode structurally related isoforms known to function as inhibitors of CDK4 kinase. The remaining transcript includes an alternate first exon located 20 Kb upstream of the remainder of the gene; this transcript contains an alternate open reading frame (ARF) that specifies a protein which is structurally unrelated to the products of the other variants. This ARF product functions as a stabilizer of the tumor suppressor protein p53 as it can interact with, and sequester, the E3 ubiquitin-protein ligase MDM2, a protein responsible for the degradation of p53. In spite of the structural and functional differences, the CDK inhibitor isoforms and the ARF product encoded by this gene, through the regulatory roles of CDK4 and p53 in cell cycle G1 progression, share a common functionality in cell cycle G1 control. This gene is frequently mutated or deleted in a wide variety of tumors, and is known to be an important tumor suppressor gene. [provided by RefSeq, Sep 2012]
Gene Name: Cyclin Dependent Kinase Inhibitor 2A
Chromosome: CHR9: 21967750 -21994490
Locus: 9p21.3
NPHP4 Gene Summary
This gene encodes a protein involved in renal tubular development and function. This protein interacts with nephrocystin, and belongs to a multifunctional complex that is localized to actin- and microtubule-based structures. Mutations in this gene are associated with nephronophthisis type 4, a renal disease, and with Senior-Loken syndrome type 4, a combination of nephronophthisis and retinitis pigmentosa. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]
Gene Name: Nephrocystin 4
Chromosome: CHR1: 5922869 -6052533
Locus: 1p36.31
Gene Diseases
The NPHP4 CDKN2A Fusion has been associated with the following diseases:
| Disease Name |
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| Skin Cutaneous Melanoma |
FISH Probe Protocols
| Protocol, Procedure, or Form Name | Last Modified | Download |
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