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Gene-specific Copy Number Variation Probe-EPM2A

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Catalog: CNVFP-EPM2A-04787
Classification: Copy Number Variation
Description: Our Gene-specific Copy Number Variation Probes usually target the flanks of the target gene (EPM2A). The product usually consists of a combination of reagents, which consists of a probe with a selected dye color and a hybridization reagent. We provide CNV FISH Probes with a variety of dye color combinations to meet various challenges. Probe products not only provide some classic color combinations but also provide customized probe services.
Application: EPM2A Gene-specific copy number variation probes are mainly used to detect the copy number variation related to EPM2A genes. This product achieves the purpose of detection by hybridizing with the EPM2A gene. Due to this design method, our probe products can detect the amplification and deletion of target genes on chromosomes through FISH.
Category: Copy Number Variation
Probe Kits Volume (µL): 40 μL
Quantity: 20 Tests
Hybridization Solution (µL): 200 μL
Turnaround Time: 7-10 Business Days
Shipping Time: 1-2 Day Expedited Shipping
Storage Conditions: Store at -20℃ and avoid light;
Shipping Conditions: -20℃

Gene Details

Gene Name EPM2A, Laforin Glucan Phosphatase
Gene Summary [Provided by RefSeq] This gene encodes a dual-specificity phosphatase and may be involved in the regulation of glycogen metabolism. The protein acts on complex carbohydrates to prevent glycogen hyperphosphorylation, thus avoiding the formation of insoluble aggregates. Loss-of-function mutations in this gene have been associated with Lafora disease, a rare, adult-onset recessive neurodegenerative disease, which results in myoclonus epilepsy and usually results in death several years after the onset of symptoms. The disease is characterized by the accumulation of insoluble particles called Lafora bodies, which are derived from glycogen. [provided by RefSeq, Jan 2018]
Gene Symbol EPM2A
Location 6q24.3
Chromosome Chromosome6
Coordinates This gene maps to 145946439-146056991 in GRCh37 coordinates.
Species Human

Order Sheet

Number Dye Color Order Name Absorbance Maximum Emission Maximum Add to Cart
1 OR CNVFP-EPM2A-04787-OR 573nm 548nm
2 RE CNVFP-EPM2A-04787-RE 599nm 580nm
3 GO CNVFP-EPM2A-04787-GO 551nm 525nm
4 GR CNVFP-EPM2A-04787-GR 515nm 491nm
5 AQ CNVFP-EPM2A-04787-AQ 467nm 418nm

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