PrimePCR™ Probe Assay: RYR1, 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:   qHsaCIP0030836
Assay Design:   Intron-spanning
Chromosome Location:   19:39010068-39013878question
Amplicon Length:   106
Splice Variants Targeted:   ENST00000359596 ENST00000355481 ENST00000360985 ENST00000538206

Gene Information

This gene encodes a ryanodine receptor found in skeletal muscle. The encoded protein functions as a calcium release channel in the sarcoplasmic reticulum but also serves to connect the sarcoplasmic reticulum and transverse tubule. Mutations in this gene are associated with malignant hyperthermia susceptibility central core disease and minicore myopathy with external ophthalmoplegia. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq Jul 2008]

Gene Symbol:   RYR1
Gene Name:   ryanodine receptor 1 (skeletal)
Aliases:   CCO, MHS, MHS1, RYDR, RYR, SKRR
RefSeq:   NC_000019.9 NG_008866.1 NT_011109.16
Ensembl:   ENSG00000196218
Entrez:   6261
Chromosome Mapping:   19q13.1

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