Hs02549957_cn

• Gene Symbol: TMEM30A
• Assay Reference Genome Location: Chr.6:75256000 on build GRCh38
• Cytoband: 6q14.1

Target Gene Details

• Entrez Gene ID: 55754
• Gene Name: transmembrane protein 30A
• Gene Aliases: C6orf67, CDC50A
• Location: Chr.6:75252922-75284916 on Build GRCh38
• Assay Gene Location: Within Exon 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TMEM30A	NM_001143958.1	6	1358	NP_001137430.1
	NM_018247.3	7	1466	NP_060717.1
	AJ420517.1	1	139
	AK001718.1	7	1335	BAA91859.1
	AK022883.1	1	2205
	AK292823.1	6	1223
	AK293225.1	8	1291
	AK295567.1	8	1287
	AL162046.1	4	694	CAB82389.1
	AL832490.1	7	1389	CAH56205.1
	AL832815.1	7	1328	CAH56262.1
	BC009006.1	6	1209	AAH09006.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv603763	Chr.6:75213889 - 75299710 on Build GRCh38	Loss	TMEM30A FILIP1 COX7A2 LOC100506804
nsv603762	Chr.6:75079810 - 75270703 on Build GRCh38	Loss	TMEM30A COL12A1 COX7A2
nsv603764	Chr.6:75254035 - 75315887 on Build GRCh38	Loss	TMEM30A FILIP1 LOC100506804

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

drug transmembrane transport
positive regulation of neuron projection development
protein localization to endosome
phospholipid translocation
positive regulation of protein exit from endoplasmic reticulum

Function(s)

protein binding