Hs04598480_cn

• Gene Symbol: LOC100506286
• Assay Reference Genome Location: Chr.2:101152116 on build GRCh38
• Cytoband: 2q11.2

Target Gene Details

• Entrez Gene ID: 100506286
• Gene Name: uncharacterized LOC100506286
• Gene Aliases: -
• Location: Chr.2:101151660-101155412 on Build GRCh38
• Assay Gene Location: Within Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
LOC100506286	NR_135594.1	1	457
	AK056547.1	1	457
	DA744225.1	1	457

Target Gene Details

• Entrez Gene ID: 11138
• Gene Name: TBC1 domain family member 8
• Gene Aliases: AD3, GRAMD8, HBLP1, TBC1D8A, VRP
• Location: Chr.2:101006435-101195326 on Build GRCh38
• Assay Gene Location: Within Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TBC1D8	XM_011510507.1			XP_011508809.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv834317	Chr.2:101055657 - 101215215 on Build GRCh38	Loss	TBC1D8 LOC100506286
esv34123	Chr.2:101008454 - 101391851 on Build GRCh38	Loss	CNOT11 TBC1D8 RPL31 LOC100506286 CREG2 RNF149 MIR5696 SNORD89

More Information

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

Panther Classification:

Molecular Function -

GTPase-activating protein

Gene Ontology Categories:

Process(es)

intracellular protein transport
blood circulation
positive regulation of cell proliferation
regulation of vesicle fusion
activation of GTPase activity
regulation of cilium assembly

Function(s)

GTPase activator activity
Rab GTPase binding