Hs04486128_cn

• Gene Symbol: SHC2
• Assay Reference Genome Location: Chr.19:421583 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 13

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

More Information

Additional Information:

For this assay, SNP(s) [rs73507717] 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