GNAS-ITGAV Fusion FISH Probe
The GNAS-ITGAV Fusion FISH Probe is used to confirm a fusion of the GNAS and ITGAV genes. The fusion of the GNAS and ITGAV genes has been associated with Head And Neck Squamous Cell Carcinoma . 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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| GNAS-ITGAV-20-ORGR (Standard Design) | 20 (40 μL) | 200 μL |
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| GNAS-ITGAV-20-RERE | 20 (40 μL) | 200 μL |
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| GNAS-ITGAV-20-REOR | 20 (40 μL) | 200 μL |
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| GNAS-ITGAV-20-REGO | 20 (40 μL) | 200 μL |
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| GNAS-ITGAV-20-REGR | 20 (40 μL) | 200 μL |
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| GNAS-ITGAV-20-REAQ | 20 (40 μL) | 200 μL |
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| GNAS-ITGAV-20-ORRE | 20 (40 μL) | 200 μL |
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| GNAS-ITGAV-20-OROR | 20 (40 μL) | 200 μL |
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| GNAS-ITGAV-20-ORGO | 20 (40 μL) | 200 μL |
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| GNAS-ITGAV-20-ORAQ | 20 (40 μL) | 200 μL |
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| GNAS-ITGAV-20-GORE | 20 (40 μL) | 200 μL |
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| GNAS-ITGAV-20-GOOR | 20 (40 μL) | 200 μL |
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| GNAS-ITGAV-20-GOGO | 20 (40 μL) | 200 μL |
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| GNAS-ITGAV-20-GOGR | 20 (40 μL) | 200 μL |
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| GNAS-ITGAV-20-GOAQ | 20 (40 μL) | 200 μL |
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| GNAS-ITGAV-20-GRRE | 20 (40 μL) | 200 μL |
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| GNAS-ITGAV-20-GROR | 20 (40 μL) | 200 μL |
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| GNAS-ITGAV-20-GRGO | 20 (40 μL) | 200 μL |
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| GNAS-ITGAV-20-GRGR | 20 (40 μL) | 200 μL |
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| GNAS-ITGAV-20-GRAQ | 20 (40 μL) | 200 μL |
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| GNAS-ITGAV-20-AQRE | 20 (40 μL) | 200 μL |
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| GNAS-ITGAV-20-AQOR | 20 (40 μL) | 200 μL |
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| GNAS-ITGAV-20-AQGO | 20 (40 μL) | 200 μL |
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| GNAS-ITGAV-20-AQGR | 20 (40 μL) | 200 μL |
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| GNAS-ITGAV-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
ITGAV Gene Summary
The product of this gene belongs to the integrin alpha chain family. Integrins are heterodimeric integral membrane proteins composed of an alpha subunit and a beta subunit that function in cell surface adhesion and signaling. The encoded preproprotein is proteolytically processed to generate light and heavy chains that comprise the alpha V subunit. This subunit associates with beta 1, beta 3, beta 5, beta 6 and beta 8 subunits. The heterodimer consisting of alpha V and beta 3 subunits is also known as the vitronectin receptor. This integrin may regulate angiogenesis and cancer progression. Alternative splicing results in multiple transcript variants. Note that the integrin alpha 5 and integrin alpha V subunits are encoded by distinct genes. [provided by RefSeq, Oct 2015]
Gene Name: Integrin Subunit Alpha V
Chromosome: CHR2: 187454789 -187545628
Locus: 2q32.1
Gene Diseases
The GNAS ITGAV Fusion has been associated with the following diseases:
| Disease Name |
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| Head And Neck Squamous Cell Carcinoma |
FISH Probe Protocols
| Protocol, Procedure, or Form Name | Last Modified | Download |
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