Hs01499749_cn

• Gene Symbol: TBC1D8B
• Assay Reference Genome Location: Chr.X:106840795 on build GRCh38
• Cytoband: Xq22.3

Target Gene Details

• Entrez Gene ID: 54885
• Gene Name: TBC1 domain family member 8B
• Gene Aliases: GRAMD8B
• Location: Chr.X:106802689-106876150 on Build GRCh38
• Assay Gene Location: Within Exon 10

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TBC1D8B	NM_017752.2	10	1795	NP_060222.2
	NM_198881.1	10	1795	NP_942582.1
	XM_006724669.1	9	1645	XP_006724732.1
	XM_006724670.3	10	1609	XP_006724733.1
	AB449890.1	10	1630
	AB449891.1	10	1630
	AK091248.1	1	112	BAC03620.1
	AK123957.1	10	1795	BAC85735.1
	BC122564.1	10	1794

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2752312	Chr.X:105705935 - 107123872 on Build GRCh38	Gain	MIR548AN IL1RAPL2 SERPINA7 CXorf57 NRK MUM1L1 TBC1D8B RIPPLY1 NUP62CL MORC4 RBM41 CLDN2 RNF128

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

Function(s)

GTPase activator activity
calcium ion binding
Rab GTPase binding