Gene Symbol Report 
RYR1
| Approved Symbol |
RYR1 |
|---|---|
| Approved Name |
ryanodine receptor 1 (skeletal) |
| HGNC ID |
HGNC:10483 |
| Previous Symbols & Names |
CCO, "central core disease of muscle", MHS, MHS1 |
| Synonyms |
RYR |
| Locus Type |
gene with protein product |
| Chromosomal Location |
19q13.1 |
| GENE FAMILY |
Ion channels / Ryanodine receptors |
|
|---|---|---|
| HOMOLOGS |
MGI:99659 D Mouse Symbol: Ryr1 RGD:1586637 D Rat Symbol: Ryr1 HCOP D TreeFam D |
|
| NUCLEOTIDE SEQUENCES |
GenBank:J05200 EMBL-Bank DDBJ C RefSeq:NM_000540 D CCDS:CCDS33011.1 C |
|
| GENE RESOURCES |
Entrez Gene:6261 C Ensembl:ENSG00000196218 D UCSC:uc002oit.3 D |
NCBI Sequence Viewer Ensembl Genome Browser UCSC Genome Browser |
| PROTEIN RESOURCES |
UniProtKB:P21817 D InterPro D |
|
| CLINICAL RESOURCES |
OMIM D GeneTests D Orphanet D DECIPHER D COSMIC D LSDB:Leiden Muscular Dystrophy pages C Genetic Testing Registry C |
|
| REFERENCES |
PubMed Europe PMC C |
|
| OTHER DATABASE LINKS |
GENATLAS D GeneCards D GOPubmed D H-InvDB D QuickGO D Reactome D WikiGenes D |
|
