Hs01073456_cn

• Gene Symbol: CASQ1
• Assay Reference Genome Location: Chr.1:160192840 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: Overlaps Intron 1 - Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CASQ1	NM_001231.4			NP_001222.3
	AK300713.1
	AK313250.1
	BC022289.1			AAH22289.1
	BX500008.1
	DA766051.1
	S73775.1			AAB32063.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
esv2761950	Chr.1:160158328 - 160193847 on Build GRCh38	Gain	CASQ1 ATP1A4

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, 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