Gene-specific Copy Number Variation Probe-SLC19A3
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| Catalog: |
CNVFP-SLC19A3-18602 |
| Classification: |
Copy Number Variation |
| Description: |
Our Gene-specific Copy Number Variation Probes usually target the flanks of the target gene (SLC19A3). 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: |
SLC19A3 Gene-specific copy number variation probes are mainly used to detect the copy number variation related to SLC19A3 genes. This product achieves the purpose of detection by hybridizing with the SLC19A3 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 |
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 |
Dye Colors:
OR
RE
GO
GR
AQ
Order Sheet
| Number |
Dye Color |
Order Name |
Absorbance Maximum |
Emission Maximum |
Add to Cart |
| 1 |
OR
|
CNVFP-SLC19A3-18602-OR |
573nm |
548nm |
|
| 2 |
RE
|
CNVFP-SLC19A3-18602-RE |
599nm |
580nm |
|
| 3 |
GO
|
CNVFP-SLC19A3-18602-GO |
551nm |
525nm |
|
| 4 |
GR
|
CNVFP-SLC19A3-18602-GR |
515nm |
491nm |
|
| 5 |
AQ
|
CNVFP-SLC19A3-18602-AQ |
467nm |
418nm |
|
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