PrimePCR™ ddPCR™ Copy Number Assay: ELN, 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; 65nt amplicon; exonic; HEX version of ELN (dHsaCP2500393)

 
Fluorophore:   HEX
List Price:    $254.00
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Assay Information

Technology:   ddPCR
Assay Type:   Probe
Application:   Copy Number Variation
Unique Assay ID:   dHsaCP2506647
Chromosome Location:   hg197:73483007-73483129question
Amplicon Length:   65
Reference Assays:   , , ,
Restriction Enzymes:   HaeIII

Gene Information

This gene encodes a protein that is one of the two components of elastic fibers. The encoded protein is rich in hydrophobic amino acids such as glycine and proline which form mobile hydrophobic regions bounded by crosslinks between lysine residues. Deletions and mutations in this gene are associated with supravalvular aortic stenosis (SVAS) and autosomal dominant cutis laxa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq Jul 2008]

Gene Symbol:   ELN
Gene Name:   elastin
Aliases:   FLJ38671, FLJ43523, SVAS, WBS, WS
RefSeq:   NC_000007.13 NG_009261.1 NT_007933.15
Ensembl:   ENSG00000049540
Entrez:   2006
UniGene:   Hs.647061
Chromosome Mapping:   7q11.23

  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