Hs01448809_cn

• Gene Symbol: LOC100130950
• Assay Reference Genome Location: Chr.17:5214986 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 3

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 3 - Exon 4

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