AssayDetailPortlet

RYR1 c.14545G>A Novallele Genotyping Assay

Gene symbol

RYR1 

Nucleotide change

c.14545G>A 

Protein change

p.Val4849Ile

NCBI 1000 Genomes Browser

rs118192168

Assay catalog number

40273 

Control set catalog number(s)

40629

The RYR1 c.487C>T Novallele Genotyping Assay identifies a single nucleotide change of the RYR1 gene. The RYR1 gene encodes for a ryanodine receptor found in skeletal muscle. Mutations of the RYR1 gene can be linked to malignant hyperthermia susceptibility, which is triggered by drugs metabolized by the RYR1 pathway. These drugs may include succinylcholine, caffeine, desflurane, enflurane, halothane, or methoxyflurane.

Variant information

The RYR1 c.487C>T Novallele Genotyping Assay is used to amplify and identify specific genetic polymorphisms or mutations. This assay provides scientists with a simple way to quickly genotype this locus from isolated human genomic DNA. The assay contains functionally-verified oligonucleotide primers necessary for PCR and subsequent allele identification by DNA melting. For Research Use Only. Not for use in diagnostic procedures.

Catalog number

 

40273 

 

Gene symbol

 

RYR1 

Alias

 

Ryanodine Receptor 1, Skeletal Muscle Calcium, Release Channel, Skeletal Muscle Ryanodine Receptor, Central Core Disease of Muscle, RYR-1, RYDR, CCO, MHS, RYR, MHS1, SKRR 

Nucleotide change

 

c.14545G>A 

Protein change

 

p.Val4849Ile

Allele information

 

 

Application area

 

Inherited disease

Pharmacogenetics

Variant type

 

SNP

Cytogenetic location

 

19q13.2

SNP type

 

Missense 

 

NCBI 1000 Genomes Browser

 

rs118192168

dbSNP ID

 

ClinVar

 

Online Mendelian Inheritance in Man (OMIM)

 

 

PharmGKB

 

Drug interaction

 

caffeine, desflurane, enflurane, ether, halothane, isoflurane, methoxyflurane, sevoflurane, succinylcholine 

Product specifications

The RYR1 c.14545G>A Novallele Genotyping Assay is compatible with any thermocycler capable of high-resolution melting (HRM). Each assay comprises a single tube containing the primers and probes optimized to detect the target. Each tube contains 600 µl, which is enough for 166 reactions. The assay is stable for 6 months at 2–8ºC.

Genotyping analysis

The RYR1 c.14545G>A Novallele Genotyping Assay identifies a SNP of c.14545G>A. The graph displays the homozygous wild type in black, the heterozygous variant in blue, and the homozygous variant in red. The data were generated using the companion Novallele Control Set.

Resources

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