Gene-specific Copy Number Variation Probe-SMN2
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| Catalog: |
CNVFP-SMN2-18937 |
| Classification: |
Copy Number Variation |
| Description: |
Our Gene-specific Copy Number Variation Probes usually target the flanks of the target gene (SMN2). 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: |
SMN2 Gene-specific copy number variation probes are mainly used to detect the copy number variation related to SMN2 genes. This product achieves the purpose of detection by hybridizing with the SMN2 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 |
Survival Of Motor Neuron 2, Centromeric |
| Gene Summary [Provided by RefSeq] |
This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. The telomeric and centromeric copies of this gene are nearly identical and encode the same protein. While mutations in the telomeric copy are associated with spinal muscular atrophy, mutations in this gene, the centromeric copy, do not lead to disease. This gene may be a modifier of disease caused by mutation in the telomeric copy. The critical sequence difference between the two genes is a single nucleotide in exon 7, which is thought to be an exon splice enhancer. Note that the nine exons of both the telomeric and centromeric copies are designated historically as exon 1, 2a, 2b, and 3-8. It is thought that gene conversion events may involve the two genes, leading to varying copy numbers of each gene. The full length protein encoded by this gene localizes to both the cytoplasm and the nucleus. Within the nucleus, the protein localizes to subnuclear bodies called gems which are found near coiled bodies containing high concentrations of small ribonucleoproteins (snRNPs). This protein forms heteromeric complexes with proteins such as SIP1 and GEMIN4, and also interacts with several proteins known to be involved in the biogenesis of snRNPs, such as hnRNP U protein and the small nucleolar RNA binding protein. Four transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Sep 2008] |
| Gene Symbol |
SMN2 |
| Location |
5q13.2 |
| Chromosome |
Chromosome5 |
| Coordinates |
This gene maps to 70220767-70248842 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-SMN2-18937-OR |
573nm |
548nm |
|
| 2 |
RE
|
CNVFP-SMN2-18937-RE |
599nm |
580nm |
|
| 3 |
GO
|
CNVFP-SMN2-18937-GO |
551nm |
525nm |
|
| 4 |
GR
|
CNVFP-SMN2-18937-GR |
515nm |
491nm |
|
| 5 |
AQ
|
CNVFP-SMN2-18937-AQ |
467nm |
418nm |
|
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