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

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