Hs00261975_cn

• Gene Symbol: LOC100130950
• Assay Reference Genome Location: Chr.17:5210591 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 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
LOC100130950	NR_034082.1
	AK021878.1

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 Exon 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SCIMP	NM_001271842.1	5	732	NP_001258771.1
	NM_207103.3	5	753	NP_996986.1
	AK297035.1	5	680
	AK310145.1	5	732
	AY358809.1	5	735	AAQ89169.1
	BC130554.1
	BC130556.1
	BC144395.1

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

More Information

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

Gene Ontology Categories:

Process(es)

meiosis I
positive regulation of ERK1 and ERK2 cascade

Function(s)

protein binding