Gene-specific Copy Number Variation Probe-NPC1
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| Catalog: |
CNVFP-NPC1-14504 |
| Classification: |
Copy Number Variation |
| Description: |
Our Gene-specific Copy Number Variation Probes usually target the flanks of the target gene (NPC1). 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: |
NPC1 Gene-specific copy number variation probes are mainly used to detect the copy number variation related to NPC1 genes. This product achieves the purpose of detection by hybridizing with the NPC1 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 |
NPC Intracellular Cholesterol Transporter 1 |
| Gene Summary [Provided by RefSeq] |
This gene encodes a large protein that resides in the limiting membrane of endosomes and lysosomes and mediates intracellular cholesterol trafficking via binding of cholesterol to its N-terminal domain. It is predicted to have a cytoplasmic C-terminus, 13 transmembrane domains, and 3 large loops in the lumen of the endosome - the last loop being at the N-terminus. This protein transports low-density lipoproteins to late endosomal/lysosomal compartments where they are hydrolized and released as free cholesterol. Defects in this gene cause Niemann-Pick type C disease, a rare autosomal recessive neurodegenerative disorder characterized by over accumulation of cholesterol and glycosphingolipids in late endosomal/lysosomal compartments.[provided by RefSeq, Aug 2009] |
| Gene Symbol |
NPC1 |
| Location |
18q11.2 |
| Chromosome |
Chromosome18 |
| Coordinates |
This gene maps to 21111462-21166581 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-NPC1-14504-OR |
573nm |
548nm |
|
| 2 |
RE
|
CNVFP-NPC1-14504-RE |
599nm |
580nm |
|
| 3 |
GO
|
CNVFP-NPC1-14504-GO |
551nm |
525nm |
|
| 4 |
GR
|
CNVFP-NPC1-14504-GR |
515nm |
491nm |
|
| 5 |
AQ
|
CNVFP-NPC1-14504-AQ |
467nm |
418nm |
|
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