Gene-specific Copy Number Variation Probe-PHKA1
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| Catalog: |
CNVFP-PHKA1-15558 |
| Classification: |
Copy Number Variation |
| Description: |
Our Gene-specific Copy Number Variation Probes usually target the flanks of the target gene (PHKA1). 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: |
PHKA1 Gene-specific copy number variation probes are mainly used to detect the copy number variation related to PHKA1 genes. This product achieves the purpose of detection by hybridizing with the PHKA1 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 |
Phosphorylase Kinase Regulatory Subunit Alpha 1 |
| Gene Summary [Provided by RefSeq] |
Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, and the skeletal muscle isoform is encoded by this gene. The beta subunit is the same in both the muscle and hepatic isoforms, and encoded by one gene. The gamma subunit also includes the skeletal muscle and hepatic isoforms, which are encoded by two different genes. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9D, also known as X-linked muscle glycogenosis. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. A pseudogene has been found on chromosome 1.[provided by RefSeq, Feb 2010] |
| Gene Symbol |
PHKA1 |
| Location |
Xq13.1 |
| Chromosome |
ChromosomeX |
| Coordinates |
This gene maps to 71798663-71934029 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-PHKA1-15558-OR |
573nm |
548nm |
|
| 2 |
RE
|
CNVFP-PHKA1-15558-RE |
599nm |
580nm |
|
| 3 |
GO
|
CNVFP-PHKA1-15558-GO |
551nm |
525nm |
|
| 4 |
GR
|
CNVFP-PHKA1-15558-GR |
515nm |
491nm |
|
| 5 |
AQ
|
CNVFP-PHKA1-15558-AQ |
467nm |
418nm |
|
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