Hs01795666_cn

• Gene Symbol: LOC100130950
• Assay Reference Genome Location: Chr.17:5234773 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 Exon 7 - Intron 7

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: Overlaps Intron 1 - Exon 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 SPAG7 NUP88 VMO1 ARRB2 TM4SF5 LOC101559451 MINK1 LOC400568 INCA1 RPAIN RNF167 ZMYND15 USP6 LOC102724009 CHRNE C17orf107 PLD2 MED11 LOC100130950 GP1BA LOC101928000 CAMTA2 ZNF232 ALOX15 LOC101927979 KIF1C MIR6865 RABEP1 SCIMP SMTNL2 SLC25A11 LOC107984973 ZNF594 SLC52A1 MIR6864 CXCL16 GLTPD2 DHX33 ENO3 PFN1 PSMB6 ZFP3 C1QBP
dgv3089n100	Chr.17:5187013 - 5327634 on Build GRCh38	Gain	RABEP1 SCIMP LOC100130950 ZNF594
nsv952114	Chr.17:5228306 - 5237005 on Build GRCh38	Deletion	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