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

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