Hs07174745_cn

• Gene Symbol: TMC2
• Assay Reference Genome Location: Chr.20:2539111 on build GRCh38
• Cytoband: 20p13

Target Gene Details

• Entrez Gene ID: 117532
• Gene Name: transmembrane channel like 2
• Gene Aliases: C20orf145
• Location: Chr.20:2536607-2642185 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TMC2	NM_080751.2			NP_542789.2
	AF417580.2			AAL86401.2

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv470535	Chr.20:1948896 - 2780594 on Build GRCh38	Gain	SNRPB SNORD119 SNORD56 NOP56 MIR1292 LOC727993 ZNF343 TGM6 SNORD110 SNORD86 SNORA51 LOC388780 IDH3B TMC2 SNORD57 STK35 TGM3 EBF4 PDYN
esv3644998	Chr.20:2148722 - 2690694 on Build GRCh38	Gain	SNRPB SNORD119 SNORD56 NOP56 MIR1292 ZNF343 TGM6 SNORD110 SNORD86 SNORA51 LOC388780 IDH3B TMC2 SNORD57 TGM3
dgv40e213	Chr.20:2507648 - 2627511 on Build GRCh38	Gain	TMC2 ZNF343

More Information

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

Gene Ontology Categories:

Process(es)

detection of mechanical stimulus involved in sensory perception of sound
vestibular reflex
calcium ion transmembrane transport

Function(s)

voltage-gated calcium channel activity