PrimePCR™ ddPCR™ Copy Number Assay: SMARCB1, Human

PrimePCR

ddPCR probe assay designed for copy number variation analysis. Probe assays consist of unlabeled PCR primers and a dual labeled fluorescent probe.

Info:   HEX; 58nt amplicon; exonic; HEX version of SMARCB1 (dHsaCP1000520)

 
Fluorophore:   HEX
List Price:    $254.00
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Assay Information

Technology:   ddPCR
Assay Type:   Probe
Application:   Copy Number Variation
Unique Assay ID:   dHsaCP2506364
Chromosome Location:   hg1922:24143139-24143261question
Amplicon Length:   58
Reference Assays:   , , ,
Restriction Enzymes:   HaeIII

Gene Information

The protein encoded by this gene is part of a complex that relieves repressive chromatin structures allowing the transcriptional machinery to access its targets more effectively. The encoded nuclear protein may also bind to and enhance the DNA joining activity of HIV-1 integrase. This gene has been found to be a tumor suppressor and mutations in it have been associated with malignant rhabdoid tumors. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq Jul 2008]

Gene Symbol:   SMARCB1
Gene Name:   SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
Aliases:   BAF47, INI1, RDT, RTPS1, SNF5, SNF5L1, Sfh1p, Snr1, hSNFS
RefSeq:   NC_000022.10 NT_011520.12 NG_009303.1
Ensembl:   ENSG00000099956
Entrez:   6598
UniGene:   Hs.534350
Chromosome Mapping:   22q11.23,22q11

  Download Validation Data (.pdf)


Products used to generate validation data:

ddPCR Instrument QX200
ddPCR Supermix ddPCR Supermix for Probes (no dUTP)
Experimental Sample NA18916,AG09394

Copy Number
Copy number analysis of two samples, using the EIF2C1 reference assay. Technical replicates are shown.

Copy Number Text

ddPCR Amplitude Scatter Plot
Single-well data of target assay (FAM, Channel 1) duplexed to EIF2C1 reference assay (HEX, Channel 2).

ddPCR Amplitude Scatter Plot Text

Number Description Download