Hs04783768_cn

• Gene Symbol: TIMMDC1
• Assay Reference Genome Location: Chr.3:119506833 on build GRCh38
• Cytoband: 3q13.33

Target Gene Details

• Entrez Gene ID: 51300
• Gene Name: translocase of inner mitochondrial membrane domain containing 1
• Gene Aliases: C3orf1
• Location: Chr.3:119498521-119524281 on Build GRCh38
• Assay Gene Location: Within Intron 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TIMMDC1	NM_016589.3			NP_057673.2
	XM_017006556.1			XP_016862045.1
	AF139077.1			AAF62372.1
	AF210057.1			AAG43510.1
	AK026250.1
	AK225954.1
	AL136622.1			CAB66557.1
	AL390077.1			CAB98201.1
	AL390090.1			CAB98212.1
	AL390094.1			CAB98251.1
	AY358633.1			AAQ88996.1
	BC012341.1			AAH12341.1
	CR457158.1			CAG33439.1
	CR533524.1			CAG38555.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3597561	Chr.3:119505783 - 119509002 on Build GRCh38	Gain	TIMMDC1
nsv829695	Chr.3:119460043 - 119649149 on Build GRCh38	Loss	TIMMDC1 CD80 PLA1A POPDC2 ADPRH POGLUT1 TMEM39A

More Information

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

Gene Ontology Categories:

Process(es)

mitochondrial respiratory chain complex I assembly

Function(s)

protein binding