SMA@ FISH Probe
The SMA@ FISH probe is designed to hybridize to the SMA@ gene and is primarily used for detecting amplifications and deletions associated with the gene. This probe is FISH confirmed on normal peripheral blood metaphase spreads and interphase nuclei. The probe can be labeled in one of five colors. Each probe is sold in a 20 test kit (approximately 20 slides - 22x22 mm area) and includes hybridization buffer. Please note that due to design optimizations, prices are subject to change.
** This product is for in vitro and research use only. This product is not intended for diagnostic use.
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| SMN1-20-OR (Standard Design) | 20 (40 μL) | 200 μL |  |
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| SMN1-20-RE | 20 (40 μL) | 200 μL |  |
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| SMN1-20-GO | 20 (40 μL) | 200 μL |  |
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| SMN1-20-GR | 20 (40 μL) | 200 μL |  |
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| SMN1-20-AQ | 20 (40 μL) | 200 μL |  |
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| SMN1-20-DIG | 20 (40 μL) | 200 μL |  |
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| SMN1-20-BIO | 20 (40 μL) | 200 μL |  |
Gene Summary
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 Details
Gene Symbol: SMN1
Gene Name: Survival Of Motor Neuron 1, Telomeric
Chromosome: CHR5: 70220767-70248838
Locus: 5q13.2
FISH Probe Protocols
| Protocol, Procedure, or Form Name | Last Modified | Download |
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Customer Publications
Product Details
Product: SMA@ FISH Probe
Test Kits: 20 (40 μL)
ISH Buffer: 200 μL
SKU: SMN1-20-OR
Material Safety Data Sheet: MSDS.pdf
Turnaround Time: 7-10 Business Days
Shipping Time: 1-2 Day Expedited Shipping