Hs04409430_cn

• Gene Symbol: TBC1D15
• Assay Reference Genome Location: Chr.12:71843413 on build GRCh38
• Cytoband: 12q21.1

Target Gene Details

• Entrez Gene ID: 64786
• Gene Name: TBC1 domain family member 15
• Gene Aliases: RAB7-GAP
• Location: Chr.12:71839707-71926849 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TBC1D15	NM_001146213.1			NP_001139685.2
	NM_001146214.1			NP_001139686.1
	NM_022771.4			NP_073608.4
	NR_027449.1
	XM_006719566.2			XP_006719629.1
	XM_006719567.2			XP_006719630.1
	XM_011538679.1			XP_011536981.1
	XM_011538681.2			XP_011536983.1
	XM_011538682.1			XP_011536984.1
	XM_017019824.1			XP_016875313.1
	XM_017019825.1			XP_016875314.1
	XM_017019826.1			XP_016875315.1
	XM_017019828.1			XP_016875317.1
	AB449901.1
	AK022147.1			BAB13971.1
	AK225221.1
	AK225747.1
	AK292306.1
	AK297626.1
	AK307922.1
	AL833639.1
	BC028352.2			AAH28352.1
	DA438409.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2759907	Chr.12:71708684 - 71914393 on Build GRCh38	Gain	RAB21 MRS2P2 TBC1D15
nsv559329	Chr.12:71748682 - 71886804 on Build GRCh38	Loss	RAB21 MRS2P2 TBC1D15
esv3892218	Chr.12:71785292 - 71892336 on Build GRCh38	Gain	RAB21 MRS2P2 TBC1D15
esv35030	Chr.12:71778953 - 71879053 on Build GRCh38	Gain	RAB21 MRS2P2 TBC1D15
esv3629916	Chr.12:71783025 - 71889798 on Build GRCh38	Gain	RAB21 MRS2P2 TBC1D15
nsv818924	Chr.12:71788125 - 71886804 on Build GRCh38	Gain	RAB21 MRS2P2 TBC1D15

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
regulation of GTPase activity
activation of GTPase activity
regulation of cilium assembly

Function(s)

GTPase activator activity
protein binding
Rab GTPase binding