Hs04017623_cn

• Gene Symbol: SHC2
• Assay Reference Genome Location: Chr.19:428521 on build GRCh38
• Cytoband: 19p13.3

Target Gene Details

• Entrez Gene ID: 25759
• Gene Name: SHC adaptor protein 2
• Gene Aliases: SCK, SHCB, SLI
• Location: Chr.19:416583-461011 on Build GRCh38
• Assay Gene Location: Within Intron 10

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SHC2	NM_012435.2			NP_036567.2
	XM_011527893.2			XP_011526195.1
	XM_011527894.2			XP_011526196.1
	XM_011527895.2			XP_011526197.1
	XM_011527896.2			XP_011526198.1
	XM_017026567.1			XP_016882056.1
	AB001451.1			BAA25798.1
	AL360254.1			CAB96175.1
	CF457169.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1145825	Chr.19:426999 - 434600 on Build GRCh38	Duplication	SHC2
nsv509712	Chr.19:391096 - 558643 on Build GRCh38	Insertion	C2CD4C ODF3L2 CDC34 TPGS1 GZMM MADCAM1 SHC2
dgv6155n54	Chr.19:404077 - 519032 on Build GRCh38	Loss	C2CD4C ODF3L2 TPGS1 MADCAM1 SHC2
nsv428360	Chr.19:232069 - 702131 on Build GRCh38	Gain	PRSS57 ODF3L2 TPGS1 MIER2 RNF126 FGF22 C2CD4C LOC101929060 CDC34 THEG PLPP2 GZMM HCN2 FSTL3 MADCAM1 BSG POLRMT SHC2
dgv1013e212	Chr.19:416231 - 521269 on Build GRCh38	Gain	ODF3L2 TPGS1 MADCAM1 SHC2
esv2671474	Chr.19:393636 - 481273 on Build GRCh38	Deletion	C2CD4C ODF3L2 SHC2
nsv1065558	Chr.19:305266 - 441626 on Build GRCh38	Gain	C2CD4C THEG MIER2 SHC2
nsv578091	Chr.19:411849 - 431187 on Build GRCh38	Gain	SHC2
nsv577978	Chr.19:294526 - 782854 on Build GRCh38	Gain	PRSS57 ODF3L2 LOC101928450 TPGS1 MIER2 RNF126 FGF22 C2CD4C LOC101929060 CDC34 THEG MISP GZMM HCN2 FSTL3 PALM MADCAM1 BSG POLRMT SHC2
nsv953938	Chr.19:355801 - 1104501 on Build GRCh38	Deletion	ARID3A PRSS57 ODF3L2 CFD R3HDM4 GPX4 CNN2 RNU6-9 PLPPR3 FGF22 PRTN3 C2CD4C CDC34 MISP GZMM ELANE LOC105372235 TMEM259 MADCAM1 ARHGAP45 SHC2 ABCA7 LOC101928450 RNU6-2 TPGS1 MED16 RNF126 POLR2E PTBP1 THEG KISS1R HCN2 MIR4745 FSTL3 GRIN3B PALM BSG POLRMT AZU1 MIR3187 WDR18
nsv470101	Chr.19:401714 - 1008505 on Build GRCh38	Loss	ARID3A PRSS57 ODF3L2 CFD R3HDM4 RNU6-9 PLPPR3 FGF22 PRTN3 C2CD4C CDC34 MISP GZMM ELANE LOC105372235 MADCAM1 SHC2 LOC101928450 TPGS1 MED16 RNF126 PTBP1 KISS1R HCN2 MIR4745 FSTL3 GRIN3B PALM BSG POLRMT AZU1 MIR3187 WDR18

More Information

Additional Information:

For this assay, SNP(s) [rs79214389] 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 -

scaffold/adaptor protein

Gene Ontology Categories:

Process(es)

MAPK cascade
activation of MAPK activity
transmembrane receptor protein tyrosine kinase signaling pathway
Ras protein signal transduction
positive regulation of GTPase activity
vascular endothelial growth factor receptor signaling pathway

Function(s)

Ras guanyl-nucleotide exchange factor activity
protein binding
receptor tyrosine kinase binding