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

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