Hs06942624_cn

• Gene Symbol: RACGAP1
• Assay Reference Genome Location: Chr.12:50019272 on build GRCh38
• Cytoband: 12q13.12

Target Gene Details

• Entrez Gene ID: 29127
• Gene Name: Rac GTPase activating protein 1
• Gene Aliases: CYK4, HsCYK-4, ID-GAP, MgcRacGAP
• Location: Chr.12:49989162-50033136 on Build GRCh38
• Assay Gene Location: Within Intron 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RACGAP1	NM_001126103.2			NP_001119575.1
	NM_001126104.2			NP_001119576.1
	NM_001319999.1			NP_001306928.1
	NM_001320000.1			NP_001306929.1
	NM_001320001.1			NP_001306930.1
	NM_001320002.1			NP_001306931.1
	NM_001320003.1			NP_001306932.1
	NM_001320004.1			NP_001306933.1
	NM_001320005.1			NP_001306934.1
	NM_001320006.1			NP_001306935.1
	NM_001320007.1			NP_001306936.1
	NM_013277.4			NP_037409.2
	XM_006719359.1			XP_006719422.1
	XM_011538238.1			XP_011536540.1
	XM_011538243.1			XP_011536545.1
	XM_017019221.1			XP_016874710.1
	XM_017019222.1			XP_016874711.1
	XM_017019223.1			XP_016874712.1
	XM_017019224.1			XP_016874713.1
	XM_017019225.1			XP_016874714.1
	XM_017019227.1			XP_016874716.1
	AB030251.1			BAA90247.1
	AK000733.1			BAA91347.1
	AK315785.1
	AL136794.1			CAB66728.1
	BC024144.2			AAH24144.1
	BC032754.1			AAH32754.1
	BU940828.1
	DA051287.1
	DA441098.1
	DA500396.1
	DA502516.1
	DA812983.1
	DB076571.1
	DB084617.1
	DB090068.1
	DB164810.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv558837	Chr.12:49955982 - 50073986 on Build GRCh38	Loss	AQP6 LOC101927318 AQP5 ASIC1 RACGAP1 AQP2
esv1010880	Chr.12:50019100 - 50021969 on Build GRCh38	Insertion	RACGAP1
nsv558835	Chr.12:49881354 - 50039451 on Build GRCh38	Gain	LOC283332 AQP6 LOC101927292 LOC101927318 AQP5 RACGAP1 FAIM2 AQP2
esv3580271	Chr.12:50014434 - 50036123 on Build GRCh38	Loss	RACGAP1

More Information

Additional Information:

For this assay, SNP(s) [rs76465602] 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, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

GTPase-activating protein

Gene Ontology Categories:

Process(es)

mitotic cytokinesis
actomyosin contractile ring assembly
retrograde vesicle-mediated transport, Golgi to ER
microtubule-based movement
spermatogenesis
neuroblast proliferation
sulfate transport
embryo development
antigen processing and presentation of exogenous peptide antigen via MHC class II
positive regulation of cytokinesis
intracellular signal transduction
positive regulation of GTPase activity
regulation of small GTPase mediated signal transduction
mitotic spindle midzone assembly
regulation of attachment of spindle microtubules to kinetochore

Function(s)

GTPase activator activity
protein binding
phosphatidylinositol-3,4,5-trisphosphate binding
microtubule binding
protein kinase binding
alpha-tubulin binding
gamma-tubulin binding
metal ion binding
beta-tubulin binding