Hs07534091_cn

• Gene Symbol: TBC1D12
• Assay Reference Genome Location: Chr.10:94403401 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 Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TBC1D12	NM_015188.1	1	973	NP_056003.1
	XM_006717732.3	1	973	XP_006717795.2
	XM_011539558.2	1	121	XP_011537860.1
	XM_017015996.1	1	973	XP_016871485.1
	XM_017015997.1	1	973	XP_016871486.1
	AB011180.1	1	807
	AB449898.1	1	788

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv25061	Chr.10:94402654 - 94403589 on Build GRCh38	Loss	TBC1D12
nsv831946	Chr.10:94295433 - 94466681 on Build GRCh38	Loss	PLCE1 TBC1D12 NOC3L
nsv551950	Chr.10:94402684 - 94403387 on Build GRCh38	Gain	TBC1D12
esv2761616	Chr.10:94207011 - 94543944 on Build GRCh38	Gain	PLCE1-AS1 PLCE1 TBC1D12 NOC3L

More Information

• Set Membership: Intragenic, 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