GNAS-ARFGEF2 Fusion FISH Probe
The GNAS-ARFGEF2 Fusion FISH Probe is used to confirm a fusion of the GNAS and ARFGEF2 genes. The fusion of the GNAS and ARFGEF2 genes has been associated with Kidney Chromophobe. 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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| GNAS-ARFGEF2-20-ORGR (Standard Design) | 20 (40 μL) | 200 μL |
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| GNAS-ARFGEF2-20-RERE | 20 (40 μL) | 200 μL |
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| GNAS-ARFGEF2-20-REOR | 20 (40 μL) | 200 μL |
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| GNAS-ARFGEF2-20-REGO | 20 (40 μL) | 200 μL |
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| GNAS-ARFGEF2-20-REGR | 20 (40 μL) | 200 μL |
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| GNAS-ARFGEF2-20-REAQ | 20 (40 μL) | 200 μL |
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| GNAS-ARFGEF2-20-ORRE | 20 (40 μL) | 200 μL |
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| GNAS-ARFGEF2-20-OROR | 20 (40 μL) | 200 μL |
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| GNAS-ARFGEF2-20-ORGO | 20 (40 μL) | 200 μL |
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| GNAS-ARFGEF2-20-ORAQ | 20 (40 μL) | 200 μL |
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| GNAS-ARFGEF2-20-GORE | 20 (40 μL) | 200 μL |
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| GNAS-ARFGEF2-20-GOOR | 20 (40 μL) | 200 μL |
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| GNAS-ARFGEF2-20-GOGO | 20 (40 μL) | 200 μL |
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| GNAS-ARFGEF2-20-GOGR | 20 (40 μL) | 200 μL |
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| GNAS-ARFGEF2-20-GOAQ | 20 (40 μL) | 200 μL |
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| GNAS-ARFGEF2-20-GRRE | 20 (40 μL) | 200 μL |
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| GNAS-ARFGEF2-20-GROR | 20 (40 μL) | 200 μL |
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| GNAS-ARFGEF2-20-GRGO | 20 (40 μL) | 200 μL |
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| GNAS-ARFGEF2-20-GRGR | 20 (40 μL) | 200 μL |
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| GNAS-ARFGEF2-20-GRAQ | 20 (40 μL) | 200 μL |
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| GNAS-ARFGEF2-20-AQRE | 20 (40 μL) | 200 μL |
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| GNAS-ARFGEF2-20-AQOR | 20 (40 μL) | 200 μL |
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| GNAS-ARFGEF2-20-AQGO | 20 (40 μL) | 200 μL |
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| GNAS-ARFGEF2-20-AQGR | 20 (40 μL) | 200 μL |
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| GNAS-ARFGEF2-20-AQAQ | 20 (40 μL) | 200 μL |
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GNAS Gene Summary
This locus has a highly complex imprinted expression pattern. It gives rise to maternally, paternally, and biallelically expressed transcripts that are derived from four alternative promoters and 5' exons. Some transcripts contain a differentially methylated region (DMR) at their 5' exons, and this DMR is commonly found in imprinted genes and correlates with transcript expression. An antisense transcript is produced from an overlapping locus on the opposite strand. One of the transcripts produced from this locus, and the antisense transcript, are paternally expressed noncoding RNAs, and may regulate imprinting in this region. In addition, one of the transcripts contains a second overlapping ORF, which encodes a structurally unrelated protein - Alex. Alternative splicing of downstream exons is also observed, which results in different forms of the stimulatory G-protein alpha subunit, a key element of the classical signal transduction pathway linking receptor-ligand interactions with the activation of adenylyl cyclase and a variety of cellular reponses. Multiple transcript variants encoding different isoforms have been found for this gene. Mutations in this gene result in pseudohypoparathyroidism type 1a, pseudohypoparathyroidism type 1b, Albright hereditary osteodystrophy, pseudopseudohypoparathyroidism, McCune-Albright syndrome, progressive osseus heteroplasia, polyostotic fibrous dysplasia of bone, and some pituitary tumors. [provided by RefSeq, Aug 2012]
Gene Name: GNAS Complex Locus
Chromosome: CHR20: 57414794 -57486250
Locus: 20q13.32
ARFGEF2 Gene Summary
ADP-ribosylation factors (ARFs) play an important role in intracellular vesicular trafficking. The protein encoded by this gene is involved in the activation of ARFs by accelerating replacement of bound GDP with GTP and is involved in Golgi transport. It contains a Sec7 domain, which may be responsible for its guanine-nucleotide exchange activity and also brefeldin A inhibition. [provided by RefSeq, Jul 2008]
Gene Name: ADP Ribosylation Factor Guanine Nucleotide Exchange Factor 2
Chromosome: CHR20: 47538274 -47653230
Locus: 20q13.13
Gene Diseases
The GNAS ARFGEF2 Fusion has been associated with the following diseases:
| Disease Name |
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| Kidney Chromophobe |
FISH Probe Protocols
| Protocol, Procedure, or Form Name | Last Modified | Download |
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