Hs01109842_cn

• Gene Symbol: LOC100130950
• Assay Reference Genome Location: Chr.17:5210879 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	444	NP_001258771.1
	NM_207103.3	5	465	NP_996986.1
	AK297035.1	5	392
	AK310145.1	5	444
	AY358809.1	5	447	AAQ89169.1
	BC127925.1	5	400
	BC130554.1	5	393
	BC130556.1	5	393
	BC144395.1	5	372
	DQ778084.1	5	339

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

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