SLC19A3 Break Apart FISH Probe
Empire Genomics’ SLC19A3 Break Apart FISH Probe is designed to flank the SLC19A3 gene and is typically used for detecting SLC19A3 rearrangements such as translocations. This probe is FISH confirmed on normal peripheral blood metaphase spreads and interphase nuclei. The probe comes labeled in green and orange by default, but may be customized to meet your needs.
** 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 |
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| SLC19A3BA-20-GROR (Standard Design) | 20 (40 μL) | 200 μL |
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| SLC19A3BA-20-AQOR | 20 (40 μL) | 200 μL |
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| SLC19A3BA-20-GOGR | 20 (40 μL) | 200 μL |
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| SLC19A3BA-20-GORE | 20 (40 μL) | 200 μL |
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| SLC19A3BA-20-GRGO | 20 (40 μL) | 200 μL |
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| SLC19A3BA-20-GRRE | 20 (40 μL) | 200 μL |
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| SLC19A3BA-20-ORGR | 20 (40 μL) | 200 μL |
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| SLC19A3BA-20-REGO | 20 (40 μL) | 200 μL |
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| SLC19A3BA-20-REGR | 20 (40 μL) | 200 μL |
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Gene Summary
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 Details
Gene Symbol: SLC19A3
Gene Name: Solute Carrier Family 19 Member 3
Chromosome: CHR2: 228549925-228582745
Locus: 2q36.3
FISH Probe Protocols
| Protocol, Procedure, or Form Name | Last Modified | Download |
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Customer Publications
Product Details
Product: SLC19A3 FISH Probe
Test Kits: 20 (40 μL)
ISH Buffer: 200 μL
SKU: SLC19A3-20-OR
Material Safety Data Sheet: MSDS.pdf
Turnaround Time: 7-10 Business Days
Shipping Time: 1-2 Day Expedited Shipping