Gene-specific Break Apart Probe-SMN1

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Catalog:	GBAFP-SMN1-17306
Classification:	Gene-specific Break Apart Probes
Description:	Our Gene-specific Break Apart Probes usually target the flanks of the target gene (SMN1). 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:	SMN1 Gene-specific Break Apart Probe is designed to detect potential SMN1 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 1, Telomeric
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. However, mutations in this gene, the telomeric copy, are associated with spinal muscular atrophy; mutations in the centromeric copy do not lead to disease. The centromeric copy 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 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. Multiple transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2014]
Gene Symbol	SMN1
Location	5q13.2
Chromosome	Chromosome5
Coordinates	This gene maps to 70220767-70248838 in GRCh37 coordinates.
Species	Human

Order Sheet

Number	Dye Color	Order Name	Absorbance Maximum	Emission Maximum	Add to Cart
1	OR; GR	GBAFP-SMN1-17306-ORGR	573nm;515nm	548nm;491nm
2	AQ; OR	GBAFP-SMN1-17306-AQOR	467nm;573nm	418nm;548nm
3	GO; GR	GBAFP-SMN1-17306-GOGR	551nm;515nm	525nm;491nm
4	GO; RE	GBAFP-SMN1-17306-GORE	551nm;599nm	525nm;580nm
5	GR; GO	GBAFP-SMN1-17306-GRGO	515nm;551nm	491nm;525nm
6	GR; OR	GBAFP-SMN1-17306-GROR	515nm;573nm	491nm;548nm
7	GR; RE	GBAFP-SMN1-17306-GRRE	515nm;599nm	491nm;580nm
8	RE; GO	GBAFP-SMN1-17306-REGO	599nm;551nm	580nm;525nm
9	RE; GR	GBAFP-SMN1-17306-REGR	599nm;515nm	580nm;491nm

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