Hs02603604_cn

• Gene Symbol: TMEM30B
• Assay Reference Genome Location: Chr.14:61280703 on build GRCh38
• Cytoband: 14q23.1

Target Gene Details

• Entrez Gene ID: 161291
• Gene Name: transmembrane protein 30B
• Gene Aliases: CDC50B
• Location: Chr.14:61277370-61281812 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TMEM30B	NM_001017970.2	1	1110	NP_001017970.1
	AK091169.1	1	539
	BC101726.1	1	491	AAI01727.1
	BC113559.1	1	491

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv564881	Chr.14:60457291 - 61377535 on Build GRCh38	Gain	TMEM30B MNAT1 C14orf39 SLC38A6 TRMT5 SALRNA1 SIX1 PRKCH LOC105378189 SIX6 SIX4

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

lipid transport
positive regulation of protein exit from endoplasmic reticulum

Function(s)

protein binding