Hs02897655_cn

• Gene Symbol: TBC1D8B
• Assay Reference Genome Location: Chr.X:106827240 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 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TBC1D8B	NM_017752.2	7	1271	NP_060222.2
	NM_198881.1	7	1271	NP_942582.1
	XM_006724669.1	7	1271	XP_006724732.1
	XM_006724670.3	7	1085	XP_006724733.1
	AB449890.1	7	1106
	AB449891.1	7	1106
	AK123957.1	7	1271	BAC85735.1
	BC122564.1	7	1270
	BX648230.1	7	1255

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	RBM41 SERPINA7 NRK MUM1L1 MORC4 RIPPLY1 TBC1D8B NUP62CL IL1RAPL2 RNF128 MIR548AN CLDN2 CXorf57

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