Hs05498823_cn

• Gene Symbol: LOC100130950
• Assay Reference Genome Location: Chr.17:5233127 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	LOC101927979 ALOX15 ZFP3 KIF1C ARRB2 LOC102724009 MINK1 CHRNE MED11 USP6 SCIMP LOC107984973 PFN1 SMTNL2 RPAIN C17orf107 DHX33 INCA1 LOC101928000 GLTPD2 ZNF594 LOC101559451 MIR6865 SPAG7 PSMB6 GP1BA LOC100130950 NUP88 RABEP1 SLC52A1 RNF167 PELP1 MIR6864 SLC25A11 CAMTA2 PLD2 ZMYND15 ZNF232 TM4SF5 CXCL16 C1QBP VMO1 ENO3 LOC400568
dgv3089n100	Chr.17:5187013 - 5327634 on Build GRCh38	Gain	LOC100130950 ZNF594 RABEP1 SCIMP
nsv952114	Chr.17:5228306 - 5237005 on Build GRCh38	Deletion	LOC100130950 SCIMP

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