Hs00872262_cn

• Gene Symbol: TNNC1
• Assay Reference Genome Location: Chr.3:52454016 on build GRCh38
• Cytoband: 3p21.1

Target Gene Details

• Entrez Gene ID: 7134
• Gene Name: troponin C1, slow skeletal and cardiac type
• Gene Aliases: CMD1Z, CMH13, TN-C, TNC, TNNC
• Location: Chr.3:52451091-52454041 on Build GRCh38
• Assay Gene Location: Overlaps - Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TNNC1	NM_003280.2			NP_003271.1
	AF020769.1			AAB91994.1
	AK313743.1
	BC030244.1			AAH30244.1
	CR541865.1			CAG46663.1
	CR541885.1			CAG46683.1
	X07897.1			CAA30736.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv834697	Chr.3:52366562 - 52545401 on Build GRCh38	Loss	SEMA3G PBRM1 SMIM4 DNAH1 NT5DC2 NISCH TNNC1 BAP1 STAB1 PHF7
nsv954860	Chr.3:52439285 - 52456384 on Build GRCh38	Deletion	SEMA3G NISCH TNNC1

More Information

• Set Membership: Intragenic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

actin or actin-binding cytoskeletal protein

Gene Ontology Categories:

Process(es)

diaphragm contraction
skeletal muscle contraction
regulation of muscle contraction
response to metal ion
transition between fast and slow fiber
muscle filament sliding
regulation of muscle filament sliding speed
regulation of ATPase activity
ventricular cardiac muscle tissue morphogenesis
cardiac muscle contraction

Function(s)

calcium ion binding
protein binding
troponin I binding
troponin T binding
protein homodimerization activity
calcium-dependent protein binding
actin filament binding