C9ORF72 FISH Probe
The C9ORF72 FISH probe is designed to hybridize to the C9ORF72 gene and is primarily used for detecting amplifications and deletions associated with the gene. This probe is FISH confirmed on normal peripheral blood metaphase spreads and interphase nuclei. The probe can be labeled in one of five colors. Each probe is sold in a 20 test kit (approximately 20 slides - 22x22 mm area) and includes hybridization buffer. Please note that due to design optimizations, prices are subject to change.
** 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 |
|---|---|---|---|---|
| C9orf72-20-OR (Standard Design) | 20 (40 μL) | 200 μL |  |
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| C9orf72-20-RE | 20 (40 μL) | 200 μL |  |
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| C9orf72-20-GO | 20 (40 μL) | 200 μL |  |
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| C9orf72-20-GR | 20 (40 μL) | 200 μL |  |
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| C9orf72-20-AQ | 20 (40 μL) | 200 μL |  |
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| C9orf72-20-DIG | 20 (40 μL) | 200 μL |  |
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| C9orf72-20-BIO | 20 (40 μL) | 200 μL |  |
Gene Summary
The protein encoded by this gene plays an important role in the regulation of endosomal trafficking, and has been shown to interact with Rab proteins that are involved in autophagy and endocytic transport. Expansion of a GGGGCC repeat from 2-22 copies to 700-1600 copies in the intronic sequence between alternate 5' exons in transcripts from this gene is associated with 9p-linked ALS (amyotrophic lateral sclerosis) and FTD (frontotemporal dementia) (PMID: 21944778, 21944779). Studies suggest that hexanucleotide expansions could result in the selective stabilization of repeat-containing pre-mRNA, and the accumulation of insoluble dipeptide repeat protein aggregates that could be pathogenic in FTD-ALS patients (PMID: 23393093). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2016]
Gene Details
Gene Symbol: C9orf72
Gene Name: Chromosome 9 Open Reading Frame 72
Chromosome: CHR9: 27546543-27573481
Locus: 9p21.2
FISH Probe Protocols
| Protocol, Procedure, or Form Name | Last Modified | Download |
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Customer Publications
Product Details
Product: C9ORF72 FISH Probe
Test Kits: 20 (40 μL)
ISH Buffer: 200 μL
SKU: C9orf72-20-OR
Material Safety Data Sheet: MSDS.pdf
Turnaround Time: 7-10 Business Days
Shipping Time: 1-2 Day Expedited Shipping