Hs02148832_cn

• Gene Symbol: TMEM30A
• Assay Reference Genome Location: Chr.6:75255039 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	2319	NP_001137430.1
	NM_018247.3	7	2427	NP_060717.1
	AJ420517.1	1	1100
	AK001718.1	7	2296	BAA91859.1
	AL162046.1	4	1655	CAB82389.1
	AL832490.1	7	2350	CAH56205.1
	AL832815.1	7	2289	CAH56262.1
	BC009006.1	6	2170	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	FILIP1 COX7A2 LOC100506804 TMEM30A
nsv603762	Chr.6:75079810 - 75270703 on Build GRCh38	Loss	COL12A1 COX7A2 TMEM30A
nsv603764	Chr.6:75254035 - 75315887 on Build GRCh38	Loss	FILIP1 LOC100506804 TMEM30A

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