Hs03762929_cn

• Gene Symbol: TBC1D12
• Assay Reference Genome Location: Chr.10:94405609 on build GRCh38
• Cytoband: 10q23.33

Target Gene Details

• Entrez Gene ID: 23232
• Gene Name: TBC1 domain family member 12
• Gene Aliases: -
• Location: Chr.10:94402429-94536332 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TBC1D12	NM_015188.1			NP_056003.1
	XM_006717732.3			XP_006717795.2
	XM_006717733.2			XP_006717796.1
	XM_011539558.2			XP_011537860.1
	XM_017015996.1			XP_016871485.1
	XM_017015997.1			XP_016871486.1
	AB011180.1
	AB449898.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv831946	Chr.10:94295433 - 94466681 on Build GRCh38	Loss	TBC1D12 NOC3L PLCE1
esv2761616	Chr.10:94207011 - 94543944 on Build GRCh38	Gain	TBC1D12 NOC3L PLCE1-AS1 PLCE1

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
regulation of autophagosome assembly

Function(s)

GTPase activator activity
Rab GTPase binding