Gene-specific Copy Number Variation Probe-LARGE1

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Catalog:	CNVFP-LARGE1-08472
Classification:	Copy Number Variation
Description:	Our Gene-specific Copy Number Variation Probes usually target the flanks of the target gene (LARGE1). 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:	LARGE1 Gene-specific copy number variation probes are mainly used to detect the copy number variation related to LARGE1 genes. This product achieves the purpose of detection by hybridizing with the LARGE1 gene. Due to this design method, our probe products can detect the amplification and deletion of target genes on chromosomes through FISH.
Quantity:	20 Tests
Probe Kits Volume (µL):	40 μL
Hybridization Solution (µL):	200 μL
Turnaround Time:	7-10 Business Days
Shipping Time:	1-2 Day Expedited Shipping
Shipping Conditions:	-20℃
Storage Conditions:	Store at -20℃ and avoid light;

Gene Name	LARGE Xylosyl- And Glucuronyltransferase 1
Gene Summary [Provided by RefSeq]	This gene, which is one of the largest in the human genome, encodes a member of the N-acetylglucosaminyltransferase gene family. It encodes a glycosyltransferase which participates in glycosylation of alpha-dystroglycan, and may carry out the synthesis of glycoprotein and glycosphingolipid sugar chains. It may also be involved in the addition of a repeated disaccharide unit. Mutations in this gene cause MDC1D, a novel form of congenital muscular dystrophy with severe cognitive disability and abnormal glycosylation of alpha-dystroglycan. Alternative splicing of this gene results in two transcript variants that encode the same protein. [provided by RefSeq, Jul 2008]
Gene Symbol	LARGE1
Location	22q12.3
Chromosome	Chromosome22
Coordinates	This gene maps to 33922840-33162236 in GRCh37 coordinates.
Species	Human

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