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Gene : CACNA1S Homo sapiens

Name  ? calcium voltage-gated channel subunit alpha1 S Cytological Location  1q32.1
Brief Description  calcium voltage-gated channel subunit alpha1 S
Description  This gene encodes one of the five subunits of the slowly inactivating L-type voltage-dependent calcium channel in skeletal muscle cells. Mutations in this gene have been associated with hypokalemic periodic paralysis, thyrotoxic periodic paralysis and malignant hyperthermia susceptibility. [provided by RefSeq, Jul 2008]
  • synonyms:
  • TTPP1,
  • HOKPP,
  • L33798,
  • CCHL1A3,
  • uc001gvv.4,
  • NM_000069,
  • OTTHUMG00000035784,
  • MHS5,
  • CACNA1S,
  • calcium channel, voltage-dependent, L type, alpha 1S subunit,
  • Cav1.1,
  • CACNL1A3,
  • hypoPP,
  • HOKPP1,
  • HGNC:1397,
  • Cav1.1,
  • MHS5,
  • HOKPP,
  • CACNL1A3,
  • hypoPP
  • identifiers:
  • 779,
  • ENSG00000081248,
  • CACNA1S

Genome feature

Region: gene ? Length: 72945  
Location: 1:201039509-201112453 reverse strand Cyto location: 1q32.1


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Proteins

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SNPs

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Disease

3 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

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Expression

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Other

448 SN Ps

5 Cross References

20 Data Sets

13 Homologues

0 Located Features

97 Rna Seq Results