Product Details

SNP ID
rs193922748
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:38440829 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTGGCCGCCGAGGGCTTCGGCAAC[C/T]GCCTGTGCTTCCTGGAGCCCACTAG
Phenotype
MIM: 180901
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
RYR1 PubMed Links

Gene Details

Gene
RYR1
Gene Name
ryanodine receptor 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000540.2 210 Missense Mutation CGC,TGC R44C NP_000531.2
NM_001042723.1 210 Missense Mutation CGC,TGC R44C NP_001036188.1
XM_006723317.2 210 Missense Mutation CGC,TGC R44C XP_006723380.1
XM_006723319.2 210 Missense Mutation CGC,TGC R44C XP_006723382.1
XM_011527205.2 210 Missense Mutation CGC,TGC R44C XP_011525507.1

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