Hs04372716_cn

• Gene Symbol: SVIL
• Assay Reference Genome Location: Chr.10:29514850 on build GRCh38
• Cytoband: 10p11.23

Target Gene Details

• Entrez Gene ID: 6840
• Gene Name: supervillin
• Gene Aliases: -
• Location: Chr.10:29457338-29737001 on Build GRCh38
• Assay Gene Location: Within Intron 22

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SVIL	NM_001323599.1			NP_001310528.1
	NM_001323600.1			NP_001310529.1
	NM_003174.3			NP_003165.2
	NM_021738.2			NP_068506.2
	XM_005252570.2			XP_005252627.1
	XM_005252571.3			XP_005252628.1
	XM_005252573.2			XP_005252630.1
	XM_011519630.2			XP_011517932.2
	XM_011519631.2			XP_011517933.2
	XM_011519632.2			XP_011517934.2
	XM_011519633.2			XP_011517935.2
	XM_011519634.1			XP_011517936.1
	XM_011519635.1			XP_011517937.1
	XM_011519636.2			XP_011517938.2
	XM_011519637.2			XP_011517939.2
	XM_011519638.2			XP_011517940.2
	XM_017016575.1			XP_016872064.1
	XM_017016576.1			XP_016872065.1
	XM_017016577.1			XP_016872066.1
	XM_017016578.1			XP_016872067.1
	XM_017016579.1			XP_016872068.1
	XM_017016580.1			XP_016872069.1
	XM_017016581.1			XP_016872070.1
	XM_017016582.1			XP_016872071.1
	XM_017016583.1			XP_016872072.1
	AF051850.1			AAC64695.1
	AF051851.1			AAC64696.1
	AF109135.1			AAD14682.1
	AK304720.1
	AL117410.1			CAH56399.1
	JX467682.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1038080	Chr.10:29361590 - 29565510 on Build GRCh38	Gain	MIR604 SVIL SVIL-AS1
nsv831819	Chr.10:29514811 - 29681606 on Build GRCh38	Loss	MIR604 MIR938 SVIL
nsv6221	Chr.10:29494894 - 29528303 on Build GRCh38	Insertion	SVIL

More Information

Additional Information:

For this assay, SNP(s) [rs145352803,rs556631474] 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 -

non-motor actin binding protein

Gene Ontology Categories:

Process(es)

cytoskeleton organization
skeletal muscle tissue development
positive regulation of cytokinesis

Function(s)

protein binding
actin filament binding