Hs01002558_cn

• Gene Symbol: CASQ1
• Assay Reference Genome Location: Chr.1:160201329 on build GRCh38
• Cytoband: 1q23.2

Target Gene Details

• Entrez Gene ID: 844
• Gene Name: calsequestrin 1
• Gene Aliases: CASQ, PDIB1, VMCQA
• Location: Chr.1:160190495-160201886 on Build GRCh38
• Assay Gene Location: Within Exon 11

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CASQ1	NM_001231.4	11	1401	NP_001222.3
	AK300713.1	10	1205
	AK313250.1	11	1304
	BC022289.1	11	1287	AAH22289.1
	S73775.1	11	1291	AAB32063.1

More Information

• Set Membership: Intragenic, Exonic, non-DGV Variation

Panther Classification:

Molecular Function -

calcium-binding protein

Gene Ontology Categories:

Process(es)

endoplasmic reticulum organization
skeletal muscle tissue development
response to heat
response to organic substance
regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion
response to denervation involved in regulation of muscle adaptation
ion transmembrane transport
sarcomere organization
protein polymerization
regulation of cardiac conduction

Function(s)

calcium ion binding