Hs06957097_cn

• Gene Symbol: TBC1D30
• Assay Reference Genome Location: Chr.12:64760676 on build GRCh38
• Cytoband: 12q14.3

Target Gene Details

• Entrez Gene ID: 23329
• Gene Name: TBC1 domain family member 30
• Gene Aliases: -
• Location: Chr.12:64759489-64881022 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TBC1D30	XM_017019086.1			XP_016874575.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv832444	Chr.12:64587704 - 64774692 on Build GRCh38	Loss	MIR548C GNS RASSF3 MIR548Z TBC1D30
dgv2682n54	Chr.12:64609189 - 64806142 on Build GRCh38	Gain	MIR548C GNS RASSF3 MIR548Z TBC1D30

More Information

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

Panther Classification:

Molecular Function -

GTPase-activating protein

Gene Ontology Categories:

Process(es)

intracellular protein transport
regulation of vesicle fusion
activation of GTPase activity
negative regulation of cilium assembly

Function(s)

GTPase activator activity
Rab GTPase binding