NIPBL-SPEF2 Fusion FISH Probe
The NIPBL-SPEF2 Fusion FISH Probe is used to confirm a fusion of the NIPBL and SPEF2 genes. The fusion of the NIPBL and SPEF2 genes has been associated with Uterine Corpus Endometrial Carcinoma, Head And Neck Squamous Cell Carcinoma , Sarcoma, Bladder Urothelial Carcinoma, Skin Cutaneous Melanoma, and Uterine Carcinosarcoma. 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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| NIPBL-SPEF2-20-ORGR (Standard Design) | 20 (40 μL) | 200 μL |
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| NIPBL-SPEF2-20-RERE | 20 (40 μL) | 200 μL |
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| NIPBL-SPEF2-20-REOR | 20 (40 μL) | 200 μL |
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| NIPBL-SPEF2-20-REGO | 20 (40 μL) | 200 μL |
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| NIPBL-SPEF2-20-REGR | 20 (40 μL) | 200 μL |
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| NIPBL-SPEF2-20-REAQ | 20 (40 μL) | 200 μL |
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| NIPBL-SPEF2-20-ORRE | 20 (40 μL) | 200 μL |
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| NIPBL-SPEF2-20-OROR | 20 (40 μL) | 200 μL |
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| NIPBL-SPEF2-20-ORGO | 20 (40 μL) | 200 μL |
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| NIPBL-SPEF2-20-ORAQ | 20 (40 μL) | 200 μL |
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| NIPBL-SPEF2-20-GORE | 20 (40 μL) | 200 μL |
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| NIPBL-SPEF2-20-GOOR | 20 (40 μL) | 200 μL |
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| NIPBL-SPEF2-20-GOGO | 20 (40 μL) | 200 μL |
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| NIPBL-SPEF2-20-GOGR | 20 (40 μL) | 200 μL |
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| NIPBL-SPEF2-20-GOAQ | 20 (40 μL) | 200 μL |
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| NIPBL-SPEF2-20-GRRE | 20 (40 μL) | 200 μL |
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| NIPBL-SPEF2-20-GROR | 20 (40 μL) | 200 μL |
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| NIPBL-SPEF2-20-GRGO | 20 (40 μL) | 200 μL |
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| NIPBL-SPEF2-20-GRGR | 20 (40 μL) | 200 μL |
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| NIPBL-SPEF2-20-GRAQ | 20 (40 μL) | 200 μL |
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| NIPBL-SPEF2-20-AQRE | 20 (40 μL) | 200 μL |
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| NIPBL-SPEF2-20-AQOR | 20 (40 μL) | 200 μL |
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| NIPBL-SPEF2-20-AQGO | 20 (40 μL) | 200 μL |
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| NIPBL-SPEF2-20-AQGR | 20 (40 μL) | 200 μL |
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| NIPBL-SPEF2-20-AQAQ | 20 (40 μL) | 200 μL |
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NIPBL Gene Summary
This gene encodes the homolog of the Drosophila melanogaster Nipped-B gene product and fungal Scc2-type sister chromatid cohesion proteins. The Drosophila protein facilitates enhancer-promoter communication of remote enhancers and plays a role in developmental regulation. It is also homologous to a family of chromosomal adherins with broad roles in sister chromatid cohesion, chromosome condensation, and DNA repair. The human protein has a bipartite nuclear targeting sequence and a putative HEAT repeat. Condensins, cohesins and other complexes with chromosome-related functions also contain HEAT repeats. Mutations in this gene result in Cornelia de Lange syndrome, a disorder characterized by dysmorphic facial features, growth delay, limb reduction defects, and cognitive disability. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Name: NIPBL, Cohesin Loading Factor
Chromosome: CHR5: 36876860 -37065921
Locus: 5p13.2
SPEF2 Gene Summary
The Sperm Flagellar 2 (SPEF2) gene is located on chr5 :35617988-35814713 at 5p13.2.
Gene Name: Sperm Flagellar 2
Chromosome: CHR5: 35617988 -35814713
Locus: 5p13.2
Gene Diseases
The NIPBL SPEF2 Fusion has been associated with the following diseases:
| Disease Name |
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| Uterine Corpus Endometrial Carcinoma |
| Head And Neck Squamous Cell Carcinoma |
| Sarcoma |
| Bladder Urothelial Carcinoma |
| Skin Cutaneous Melanoma |
| Uterine Carcinosarcoma |
FISH Probe Protocols
| Protocol, Procedure, or Form Name | Last Modified | Download |
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