Gene:  SMN1, Human

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PrimePCR Primer Assays for Real-Time PCR oligo primer pair gene expression assay target

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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. Two transcript variants encoding distinct isoforms have been described. [provided by RefSeq Sep 2008]

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PrimePCR™ SYBR® Green Assay: SMN1, Human
survival of motor neuron 1, telomeric

Assay Type: SYBR® Green
Assay Design: exonic
Application: Gene Expression
Unique Assay ID: qHsaCED0037148
Info:   Same primer pair as used in probe assay qHsaCEP0039871
List Price:    $125.00
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PrimePCR™ Probe Assay: SMN1, Human
survival of motor neuron 1, telomeric

Assay Type: Probe
Assay Design: exonic
Application: Gene Expression
Unique Assay ID: qHsaCEP0039871
List Price:    $180.00
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PrimePCR™ ddPCR™ Expression EvaGreen® Assay: SMN1, Human
survival of motor neuron 1, telomeric

Assay Type: EvaGreen
Application: Gene Expression
Unique Assay ID: dHsaEG5188351
Info:   EG; Same primer pair as used in qPCR assay qHsaCED0037148; exonic
List Price:    $125.00
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PrimePCR™ ddPCR™ Expression Probe Assay: SMN1, Human
survival of motor neuron 1, telomeric

Assay Type: Probe
Application: Gene Expression
Unique Assay ID: dHsaCPE5190393
Info:   FAM; Same primer pair and probe as used in qPCR assay qHsaCEP0039871; exonic
 
Fluorophore:   FAM
List Price:    $190.00
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PrimePCR™ ddPCR™ Expression Probe Assay: SMN1, Human
survival of motor neuron 1, telomeric

Assay Type: Probe
Application: Gene Expression
Unique Assay ID: dHsaCPE5190394
Info:   HEX; Same primer pair and probe as used in qPCR assay qHsaCEP0039871; exonic
 
Fluorophore:   HEX
List Price:    $190.00
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    Related pathways not available
Number Description Download
6262 PrimePCR Assays: Meeting the MIQE Guidelines by Full Wet-Lab Validation, Rev B Click to download
6263 PrimePCR Pathway Analysis: Pathway Curation and Real-Time PCR Panel Design Strategy, Rev B Click to download
6290 PrimePCR Assays and Panels Brochure, Rev D Click to download
LIT10026370 Instruction Manual, PrimePCR Assays, Panels, and Controls, Rev E Click to download
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