Hs02531323_cn

• Gene Symbol: ARHGAP18
• Assay Reference Genome Location: Chr.6:129578106 on build GRCh38
• Cytoband: 6q22.33

Target Gene Details

• Entrez Gene ID: 93663
• Gene Name: Rho GTPase activating protein 18
• Gene Aliases: MacGAP, SENEX, bA307O14.2
• Location: Chr.6:129576145-129710225 on Build GRCh38
• Assay Gene Location: Within Exon 16

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ARHGAP18	NM_033515.2	15	2488	NP_277050.2
	XM_005267212.2	15	2564	XP_005267269.2
	XM_005267213.1	14	2363	XP_005267270.1
	XM_017011494.1	14	2439	XP_016866983.1
	AB053293.1	14	2286	BAB61887.1
	AK002195.1	2	526
	AL834511.1	15	2426	CAD39167.2
	AY643712.1	15	2489

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv604663	Chr.6:129482340 - 130671010 on Build GRCh38	Gain	SAMD3 ARHGAP18 TMEM200A TMEM244 LOC102723409 L3MBTL3 LAMA2 LOC105378159
nsv524782	Chr.6:129575356 - 129724532 on Build GRCh38	Loss	ARHGAP18

More Information

Additional Information:

For this assay, SNP(s) [rs117685592] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

GTPase-activating protein

Gene Ontology Categories:

Process(es)

small GTPase mediated signal transduction
regulation of cell shape
regulation of actin filament polymerization
regulation of actin cytoskeleton organization
positive regulation of GTPase activity
regulation of small GTPase mediated signal transduction
cell-cell adhesion
regulation of cell motility

Function(s)

GTPase activator activity
cadherin binding involved in cell-cell adhesion