Hs04023148_cn

• Gene Symbol: SHC2
• Assay Reference Genome Location: Chr.19:430490 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	GZMM MADCAM1 SHC2 ODF3L2 C2CD4C CDC34 TPGS1
nsv1145825	Chr.19:426999 - 434600 on Build GRCh38	Duplication	SHC2
nsv428360	Chr.19:232069 - 702131 on Build GRCh38	Gain	BSG GZMM FSTL3 THEG PRSS57 PLPP2 LOC101929060 HCN2 POLRMT FGF22 CDC34 MIER2 MADCAM1 SHC2 ODF3L2 C2CD4C RNF126 TPGS1
dgv6155n54	Chr.19:404077 - 519032 on Build GRCh38	Loss	MADCAM1 SHC2 ODF3L2 C2CD4C TPGS1
nsv1065558	Chr.19:305266 - 441626 on Build GRCh38	Gain	SHC2 THEG C2CD4C MIER2
esv2671474	Chr.19:393636 - 481273 on Build GRCh38	Deletion	SHC2 ODF3L2 C2CD4C
dgv1013e212	Chr.19:416231 - 521269 on Build GRCh38	Gain	MADCAM1 SHC2 ODF3L2 TPGS1
esv25497	Chr.19:428811 - 434721 on Build GRCh38	Gain+Loss	SHC2
nsv577978	Chr.19:294526 - 782854 on Build GRCh38	Gain	BSG GZMM FSTL3 THEG PRSS57 LOC101929060 HCN2 POLRMT FGF22 MISP CDC34 MIER2 LOC101928450 MADCAM1 SHC2 ODF3L2 C2CD4C RNF126 PALM TPGS1
nsv578091	Chr.19:411849 - 431187 on Build GRCh38	Gain	SHC2
nsv953938	Chr.19:355801 - 1104501 on Build GRCh38	Deletion	RNU6-2 PRTN3 MED16 THEG PRSS57 WDR18 FGF22 MISP CDC34 MIR3187 PLPPR3 MADCAM1 POLR2E ODF3L2 C2CD4C PALM R3HDM4 TPGS1 BSG GZMM FSTL3 PTBP1 RNU6-9 KISS1R TMEM259 LOC105372235 HCN2 POLRMT MIR4745 ARHGAP45 LOC101928450 CFD GRIN3B ARID3A ABCA7 SHC2 ELANE RNF126 CNN2 GPX4 AZU1
nsv470101	Chr.19:401714 - 1008505 on Build GRCh38	Loss	PRTN3 MED16 PRSS57 WDR18 FGF22 MISP CDC34 MIR3187 PLPPR3 MADCAM1 ODF3L2 C2CD4C PALM R3HDM4 TPGS1 BSG GZMM FSTL3 PTBP1 RNU6-9 KISS1R LOC105372235 HCN2 POLRMT MIR4745 LOC101928450 CFD GRIN3B ARID3A SHC2 ELANE RNF126 AZU1

More Information

Additional Information:

For this assay, SNP(s) [rs117230077] 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