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
nsv1145825	Chr.19:426999 - 434600 on Build GRCh38	Duplication	SHC2
nsv509712	Chr.19:391096 - 558643 on Build GRCh38	Insertion	GZMM MADCAM1 ODF3L2 CDC34 SHC2 C2CD4C TPGS1
dgv6155n54	Chr.19:404077 - 519032 on Build GRCh38	Loss	MADCAM1 ODF3L2 SHC2 C2CD4C TPGS1
nsv428360	Chr.19:232069 - 702131 on Build GRCh38	Gain	THEG RNF126 MIER2 PRSS57 POLRMT FSTL3 MADCAM1 BSG SHC2 C2CD4C TPGS1 HCN2 LOC101929060 PLPP2 GZMM ODF3L2 CDC34 FGF22
dgv1013e212	Chr.19:416231 - 521269 on Build GRCh38	Gain	MADCAM1 ODF3L2 SHC2 TPGS1
esv2671474	Chr.19:393636 - 481273 on Build GRCh38	Deletion	ODF3L2 SHC2 C2CD4C
nsv1065558	Chr.19:305266 - 441626 on Build GRCh38	Gain	THEG MIER2 SHC2 C2CD4C
esv25497	Chr.19:428811 - 434721 on Build GRCh38	Gain+Loss	SHC2
nsv578091	Chr.19:411849 - 431187 on Build GRCh38	Gain	SHC2
nsv577978	Chr.19:294526 - 782854 on Build GRCh38	Gain	THEG RNF126 MISP MIER2 LOC101928450 PRSS57 POLRMT FSTL3 MADCAM1 BSG SHC2 C2CD4C TPGS1 HCN2 LOC101929060 GZMM ODF3L2 PALM CDC34 FGF22
nsv953938	Chr.19:355801 - 1104501 on Build GRCh38	Deletion	TMEM259 LOC101928450 KISS1R MIR4745 PRSS57 ABCA7 MADCAM1 BSG SHC2 GPX4 TPGS1 LOC105372235 CFD PALM R3HDM4 WDR18 MED16 PLPPR3 THEG RNU6-9 RNF126 MISP MIR3187 ARHGAP45 POLRMT FSTL3 C2CD4C PTBP1 HCN2 GRIN3B AZU1 POLR2E RNU6-2 CNN2 GZMM ODF3L2 CDC34 ELANE ARID3A FGF22 PRTN3
nsv470101	Chr.19:401714 - 1008505 on Build GRCh38	Loss	LOC101928450 KISS1R MIR4745 PRSS57 MADCAM1 BSG SHC2 TPGS1 LOC105372235 CFD PALM R3HDM4 WDR18 MED16 PLPPR3 RNU6-9 RNF126 MISP MIR3187 POLRMT FSTL3 C2CD4C PTBP1 HCN2 GRIN3B AZU1 GZMM ODF3L2 CDC34 ELANE ARID3A FGF22 PRTN3

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