Gene-specific Copy Number Variation Probe-NPHP1
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| Catalog: |
CNVFP-NPHP1-14497 |
| Classification: |
Copy Number Variation |
| Description: |
Our Gene-specific Copy Number Variation Probes usually target the flanks of the target gene (NPHP1). 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: |
NPHP1 Gene-specific copy number variation probes are mainly used to detect the copy number variation related to NPHP1 genes. This product achieves the purpose of detection by hybridizing with the NPHP1 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 |
Nephrocystin 1 |
| Gene Summary [Provided by RefSeq] |
This gene encodes a protein with src homology domain 3 (SH3) patterns. This protein interacts with Crk-associated substrate, and it appears to function in the control of cell division, as well as in cell-cell and cell-matrix adhesion signaling, likely as part of a multifunctional complex localized in actin- and microtubule-based structures. Mutations in this gene cause familial juvenile nephronophthisis type 1, a kidney disorder involving both tubules and glomeruli. Defects in this gene are also associated with Senior-Loken syndrome type 1, also referred to as juvenile nephronophthisis with Leber amaurosis, which is characterized by kidney and eye disease, and with Joubert syndrome type 4, which is characterized by cerebellar ataxia, oculomotor apraxia, psychomotor delay and neonatal breathing abnormalities, sometimes including retinal dystrophy and renal disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] |
| Gene Symbol |
NPHP1 |
| Location |
2q13 |
| Chromosome |
Chromosome2 |
| Coordinates |
This gene maps to 110880913-110962639 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-NPHP1-14497-OR |
573nm |
548nm |
|
| 2 |
RE
|
CNVFP-NPHP1-14497-RE |
599nm |
580nm |
|
| 3 |
GO
|
CNVFP-NPHP1-14497-GO |
551nm |
525nm |
|
| 4 |
GR
|
CNVFP-NPHP1-14497-GR |
515nm |
491nm |
|
| 5 |
AQ
|
CNVFP-NPHP1-14497-AQ |
467nm |
418nm |
|
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