Hs01741249_cn

• Gene Symbol: LOC100130950
• Assay Reference Genome Location: Chr.17:5223347 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: Overlaps Intron 4 - Exon 5

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: Overlaps Intron 2 - Exon 2

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

More Information

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

Gene Ontology Categories:

Process(es)

meiosis I
positive regulation of ERK1 and ERK2 cascade

Function(s)

protein binding