Gene-specific Copy Number Variation Probe-BCKDHA
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Catalog: |
CNVFP-BCKDHA-01415 |
Classification: |
Copy Number Variation |
Description: |
Our Gene-specific Copy Number Variation Probes usually target the flanks of the target gene (BCKDHA). 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: |
BCKDHA Gene-specific copy number variation probes are mainly used to detect the copy number variation related to BCKDHA genes. This product achieves the purpose of detection by hybridizing with the BCKDHA 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 |
Branched Chain Keto Acid Dehydrogenase E1, Alpha Polypeptide |
Gene Summary [Provided by RefSeq] |
The branched-chain alpha-keto acid (BCAA) dehydrogenase (BCKD) complex is an innter mitochondrial enzyme complex that catalyzes the second major step in the catabolism of the branched-chain amino acids leucine, isoleucine, and valine. The BCKD complex consists of three catalytic components: a heterotetrameric (alpha2-beta2) branched-chain alpha-keto acid decarboxylase (E1), a dihydrolipoyl transacylase (E2), and a dihydrolipoamide dehydrogenase (E3). This gene encodes the alpha subunit of the decarboxylase (E1) component. Mutations in this gene result in maple syrup urine disease, type IA. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009] |
Gene Symbol |
BCKDHA |
Location |
19q13.2 |
Chromosome |
Chromosome19 |
Coordinates |
This gene maps to 41903693-41930910 in GRCh37 coordinates. |
Species |
Human |
Dye Colors:
OR
RE
GO
GR
AQ
Order Sheet
Number |
Dye Color |
Order Name |
Absorbance Maximum |
Emission Maximum |
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1 |
OR
|
CNVFP-BCKDHA-01415-OR |
573nm |
548nm |
|
2 |
RE
|
CNVFP-BCKDHA-01415-RE |
599nm |
580nm |
|
3 |
GO
|
CNVFP-BCKDHA-01415-GO |
551nm |
525nm |
|
4 |
GR
|
CNVFP-BCKDHA-01415-GR |
515nm |
491nm |
|
5 |
AQ
|
CNVFP-BCKDHA-01415-AQ |
467nm |
418nm |
|
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