PrimePCR™ SYBR® Green Assay: SMN1, Human

PrimePCR Primer Assays for Real-Time PCR oligo primer pair tube for SYBR Green gene expression

Real-time PCR primer assay designed for SYBR® Green gene expression analysis.

Info:   Same primer pair as used in probe assay qHsaCEP0039871

List Price:    $138.00
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Assay Information

Technology:   qPCR
Assay Type:   SYBR® Green
Application:   Gene Expression
Unique Assay ID:   qHsaCED0037148
Assay Design:   exonic
Chromosome Location:   5:70238545-70240494question
Amplicon Length:   132
Splice Variants Targeted:   ENST00000445041 ENST00000555262 ENST00000572839 ENST00000575993 ENST00000575598 ENST00000555147 ENST00000380743 ENST00000511812 ENST00000380742 ENST00000380741 ENST00000503079 ENST00000380707 ENST00000514951 ENST00000506163 ENST00000351205 ENST00000344423 ENST00000523202 ENST00000523095 ENST00000334414 ENST00000550358 ENST00000538708 ENST00000261266 ENST00000551525 ENST00000548122

Gene Information

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]

Gene Symbol:   SMN1
Gene Name:   survival of motor neuron 1, telomeric
Aliases:   BCD541, SMA, SMA1, SMA2, SMA3, SMA4, SMA@, SMN, SMN2, SMNT, T-BCD541
RefSeq:   NC_000005.9 NG_008691.1 NT_006713.15 NW_003315917.1
Ensembl:   ENSG00000172062
Entrez:   6606
UniGene:   Hs.535788
Chromosome Mapping:   5q13

The below validation information is for the Primer Pair only   Download Validation Data (.pdf)

Products used to generate validation data:

Real-Time PCR Instrument CFX384 Real-Time PCR Detection System
Reverse Transcription Reagent iScript™ Advanced cDNA Synthesis Kit for RT-qPCR
Real-Time PCR Supermix SsoAdvanced™ SYBR® Green Supermix
Experimental Sample qPCR Human Reference Total RNA

Summary Data:

R2 0.999600
y-intercept 34.440000
Efficiency 99

Amplification Plot
Amplification of cDNA generated from universal RNA.

Amplification of cDNA generated from universal RNA.

Melt Peak
Melt curve analysis of above amplification.

Melt curve analysis of above amplification.

Standard Curve
Standard curve generated using 20 million copies of template diluted 10 fold to 20 copies.

Standard curve generated using 20 million copies of template diluted 10 fold to 20 copies.

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