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	ENO3 LOC107984973 RABEP1 SCIMP LOC101559451 C17orf107 C1QBP GLTPD2 ARRB2 LOC101927979 VMO1 ZFP3 RPAIN SMTNL2 LOC100130950 CXCL16 MINK1 DHX33 MIR6865 LOC102724009 MED11 ZNF232 CHRNE LOC101928000 SPAG7 RNF167 ALOX15 NUP88 PFN1 INCA1 PELP1 SLC52A1 GP1BA USP6 KIF1C TM4SF5 ZMYND15 LOC400568 PSMB6 ZNF594 CAMTA2 PLD2 MIR6864 SLC25A11
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