Gene-specific Break Apart Probe-MCFD2

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Catalog:	GBAFP-MCFD2-04399
Classification:	Gene-specific Break Apart Probes
Description:	Our Gene-specific Break Apart Probes usually target the flanks of the target gene (MCFD2). Due to this design method, our probe products can detect chromosomal rearrangements, such as translocations, by FISH.The product usually consists of a reagent combination composed of a probe with a selected dye color and a hybridization reagent.
Application:	MCFD2 Gene-specific Break Apart Probe is designed to detect potential MCFD2 rearrangements. This probe has been confirmed on the metaphase and interphase chromosomes by FISH. We provide a variety of dye color combinations for Break Apart Probes for customers to choose from. Probe products not only provide some classic color combinations, but also provide customized probe services.
Quantity:	20 Tests
Probe Kits Volume (µL):	40 μL
Hybridization Solution (µL):	200 μL
Turnaround Time:	Within 10 Business Days
Shipping Time:	1-2 Day Expedited Shipping
Shipping Conditions:	-20℃
Storage Conditions:	Store at -20℃ and avoid light;

Gene Name	Multiple Coagulation Factor Deficiency 2
Gene Summary [Provided by RefSeq]	This gene encodes a soluble luminal protein with two calmodulin-like EF-hand motifs at its C-terminus. This protein forms a complex with LMAN1 (lectin mannose binding protein 1; also known as ERGIC-53) that facilitates the transport of coagulation factors V (FV) and VIII (FVIII) from the endoplasmic reticulum to the Golgi apparatus via an endoplasmic reticulum Golgi intermediate compartment (ERGIC). Mutations in this gene cause combined deficiency of FV and FVIII (F5F8D); a rare autosomal recessive bleeding disorder characterized by mild to moderate bleeding and coordinate reduction in plasma FV and FVIII levels. This protein has also been shown to maintain stem cell potential in adult central nervous system and is a marker for testicular germ cell tumors. The 3' UTR of this gene contains a transposon-like human repeat element named 'THE 1'. A processed RNA pseudogene of this gene is on chromosome 6p22.1. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 2016]
Gene Symbol	MCFD2
Location	2p21
Chromosome	Chromosome2
Coordinates	This gene maps to 47129008-47168994 in GRCh37 coordinates.
Species	Human

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