Gene-specific Break Apart Probe-SLC19A3

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Catalog:	GBAFP-SLC19A3-07417
Classification:	Gene-specific Break Apart Probes
Description:	Our Gene-specific Break Apart Probes usually target the flanks of the target gene (SLC19A3). 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:	SLC19A3 Gene-specific Break Apart Probe is designed to detect potential SLC19A3 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	Solute Carrier Family 19 Member 3
Gene Summary [Provided by RefSeq]	This gene encodes a ubiquitously expressed transmembrane thiamine transporter that lacks folate transport activity. Mutations in this gene cause biotin-responsive basal ganglia disease (BBGD); a recessive disorder manifested in childhood that progresses to chronic encephalopathy, dystonia, quadriparesis, and death if untreated. Patients with BBGD have bilateral necrosis in the head of the caudate nucleus and in the putamen. Administration of high doses of biotin in the early progression of the disorder eliminates pathological symptoms while delayed treatment results in residual paraparesis, mild cognitive disability, or dystonia. Administration of thiamine is ineffective in the treatment of this disorder. Experiments have failed to show that this protein can transport biotin. Mutations in this gene also cause a Wernicke's-like encephalopathy.[provided by RefSeq, Jan 2010]
Gene Symbol	SLC19A3
Location	2q36.3
Chromosome	Chromosome2
Coordinates	This gene maps to 228549925-228582745 in GRCh37 coordinates.
Species	Human

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