Hs04010122_cn

• Gene Symbol: SHC2
• Assay Reference Genome Location: Chr.19:418095 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 14

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SHC2	NM_012435.2			NP_036567.2
	XM_011527895.2			XP_011526197.1
	AB001451.1			BAA25798.1
	AL360254.1			CAB96175.1
	BY796046.2
	CF457169.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv509712	Chr.19:391096 - 558643 on Build GRCh38	Insertion	MADCAM1 ODF3L2 TPGS1 C2CD4C GZMM SHC2 CDC34
dgv6155n54	Chr.19:404077 - 519032 on Build GRCh38	Loss	MADCAM1 ODF3L2 TPGS1 C2CD4C SHC2
nsv428360	Chr.19:232069 - 702131 on Build GRCh38	Gain	MIER2 LOC101929060 MADCAM1 BSG PRSS57 POLRMT FGF22 C2CD4C SHC2 PLPP2 ODF3L2 FSTL3 TPGS1 RNF126 THEG HCN2 GZMM CDC34
dgv1013e212	Chr.19:416231 - 521269 on Build GRCh38	Gain	MADCAM1 ODF3L2 TPGS1 SHC2
esv2671474	Chr.19:393636 - 481273 on Build GRCh38	Deletion	ODF3L2 C2CD4C SHC2
nsv1065558	Chr.19:305266 - 441626 on Build GRCh38	Gain	MIER2 C2CD4C THEG SHC2
dgv6153n54	Chr.19:404026 - 423625 on Build GRCh38	Loss	C2CD4C SHC2
nsv817810	Chr.19:388413 - 418178 on Build GRCh38	Loss	C2CD4C SHC2
nsv578091	Chr.19:411849 - 431187 on Build GRCh38	Gain	SHC2
nsv577978	Chr.19:294526 - 782854 on Build GRCh38	Gain	MIER2 LOC101929060 MADCAM1 BSG PRSS57 POLRMT FGF22 C2CD4C SHC2 MISP ODF3L2 LOC101928450 FSTL3 TPGS1 PALM RNF126 THEG HCN2 GZMM CDC34
nsv953938	Chr.19:355801 - 1104501 on Build GRCh38	Deletion	MIR4745 MIR3187 BSG RNU6-9 R3HDM4 POLRMT FGF22 C2CD4C ELANE ARHGAP45 AZU1 GRIN3B PRTN3 KISS1R LOC101928450 FSTL3 GPX4 TPGS1 WDR18 PALM RNF126 THEG CFD LOC105372235 RNU6-2 MADCAM1 TMEM259 ABCA7 PRSS57 MED16 SHC2 MISP PLPPR3 ODF3L2 ARID3A PTBP1 CNN2 HCN2 GZMM POLR2E CDC34
nsv470101	Chr.19:401714 - 1008505 on Build GRCh38	Loss	MIR4745 MIR3187 BSG RNU6-9 R3HDM4 POLRMT FGF22 C2CD4C ELANE AZU1 GRIN3B PRTN3 KISS1R LOC101928450 FSTL3 TPGS1 WDR18 PALM RNF126 CFD LOC105372235 MADCAM1 PRSS57 MED16 SHC2 MISP PLPPR3 ODF3L2 ARID3A PTBP1 HCN2 GZMM CDC34

More Information

Additional Information:

For this assay, SNP(s) [rs112946315] 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