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Gene-specific Break Apart Probe-SMN2

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Catalog: GBAFP-SMN2-17305
Classification: Gene-specific Break Apart Probes
Description: Our Gene-specific Break Apart Probes usually target the flanks of the target gene (SMN2). Due to this design method, our probe products can detect chromosomal rearrangements, such as translocations, by FISH.The product usually consists of a reagent combination composed of a probe with a selected dye color and a hybridization reagent.
Application: SMN2 Gene-specific Break Apart Probe is designed to detect potential SMN2 rearrangements. This probe has been confirmed on the metaphase and interphase chromosomes by FISH. We provide a variety of dye color combinations for Break Apart Probes for customers to choose from. Probe products not only provide some classic color combinations, but also provide customized probe services.
Quantity: 20 Tests
Probe Kits Volume (µL): 40 μL
Hybridization Solution (µL): 200 μL
Turnaround Time: Within 10 Business Days
Shipping Time: 1-2 Day Expedited Shipping
Shipping Conditions: -20℃
Storage Conditions: Store at -20℃ and avoid light;

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

Order Sheet

Number Dye Color Order Name Absorbance Maximum Emission Maximum Add to Cart
1 OR; GR GBAFP-SMN2-17305-ORGR 573nm;515nm 548nm;491nm
2 AQ; OR GBAFP-SMN2-17305-AQOR 467nm;573nm 418nm;548nm
3 GO; GR GBAFP-SMN2-17305-GOGR 551nm;515nm 525nm;491nm
4 GO; RE GBAFP-SMN2-17305-GORE 551nm;599nm 525nm;580nm
5 GR; GO GBAFP-SMN2-17305-GRGO 515nm;551nm 491nm;525nm
6 GR; OR GBAFP-SMN2-17305-GROR 515nm;573nm 491nm;548nm
7 GR; RE GBAFP-SMN2-17305-GRRE 515nm;599nm 491nm;580nm
8 RE; GO GBAFP-SMN2-17305-REGO 599nm;551nm 580nm;525nm
9 RE; GR GBAFP-SMN2-17305-REGR 599nm;515nm 580nm;491nm

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