PrimePCR™ Probe Assay: ELN, Human

RT

Real-time PCR probe assay designed for gene expression analysis. Probe assays consist of unlabeled PCR primers and a dual labeled fluorescent probe.

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Assay Information

Technology:   qPCR
Assay Type:   Probe
Application:   Gene Expression
Unique Assay ID:   qHsaCEP0057837
Assay Design:   exonic
Chromosome Location:   7:73483522-73483671question
Amplicon Length:   120
Splice Variants Targeted:   ENST00000360537 ENST00000354765 ENST00000367572 ENST00000367571 ENST00000444202 ENST00000429150 ENST00000392309 ENST00000416623 ENST00000437412 ENST00000392307 ENST00000320631 ENST00000359393 ENST00000326446 ENST00000334746 ENST00000554565 ENST00000553975 ENST00000393170 ENST00000405844 ENST00000374155 ENST00000344321 ENST00000441828 ENST00000282406 ENST00000418390 ENST00000542504 ENST00000335681

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
Chromosome Mapping:   7q11.23

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