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

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