Hs05501616_cn

• Gene Symbol: LOC100130950
• Assay Reference Genome Location: Chr.17:5230386 on build GRCh38
• Cytoband: 17p13.2

Target Gene Details

• Entrez Gene ID: 100130950
• Gene Name: uncharacterized LOC100130950
• Gene Aliases: -
• Location: Chr.17:5192084-5235636 on Build GRCh38
• Assay Gene Location: Within Intron 5

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
LOC100130950	NR_034082.1

Target Gene Details

• Entrez Gene ID: 388325
• Gene Name: SLP adaptor and CSK interacting membrane protein
• Gene Aliases: C17orf87, UNQ5783
• Location: Chr.17:5208920-5234860 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SCIMP	NM_001271842.1			NP_001258771.1
	NM_001319190.1			NP_001306119.1
	NM_207103.3			NP_996986.1
	XM_017024615.1			XP_016880104.1
	AK057142.1
	AK297035.1
	AK310145.1
	AY358809.1			AAQ89169.1
	BC127925.1
	BC130554.1
	BC130556.1
	BC144395.1
	DQ778084.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv574273	Chr.17:4585589 - 5460332 on Build GRCh38	Gain	PELP1 MIR6865 RNF167 LOC101928000 ALOX15 GP1BA INCA1 RPAIN LOC101927979 ARRB2 C1QBP DHX33 SCIMP LOC107984973 PFN1 ENO3 GLTPD2 VMO1 MED11 PLD2 CXCL16 ZNF232 SMTNL2 ZNF594 NUP88 KIF1C MIR6864 LOC400568 LOC100130950 C17orf107 CHRNE LOC101559451 SLC52A1 ZFP3 TM4SF5 CAMTA2 PSMB6 RABEP1 USP6 SLC25A11 LOC102724009 MINK1 SPAG7 ZMYND15
dgv3089n100	Chr.17:5187013 - 5327634 on Build GRCh38	Gain	RABEP1 ZNF594 SCIMP LOC100130950
nsv952114	Chr.17:5228306 - 5237005 on Build GRCh38	Deletion	SCIMP LOC100130950

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Gene Ontology Categories:

Process(es)

meiosis I
positive regulation of ERK1 and ERK2 cascade

Function(s)

protein binding