Hs05491634_cn

• Gene Symbol: LOC100130950
• Assay Reference Genome Location: Chr.17:5232439 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 5

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: Within Intron 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
nsv1111145	Chr.17:5232350 - 5232438 on Build GRCh38	Tandem Duplication	SCIMP LOC100130950
esv1669585	Chr.17:5232400 - 5232400 on Build GRCh38	Insertion	SCIMP LOC100130950
nsv574273	Chr.17:4585589 - 5460332 on Build GRCh38	Gain	LOC101927979 SCIMP KIF1C SLC25A11 CXCL16 LOC101928000 LOC107984973 MINK1 LOC100130950 SMTNL2 ALOX15 SLC52A1 CHRNE ZNF594 C17orf107 C1QBP ENO3 ZNF232 VMO1 GP1BA MIR6865 RABEP1 PELP1 INCA1 CAMTA2 RNF167 ARRB2 USP6 DHX33 SPAG7 ZFP3 TM4SF5 MIR6864 PSMB6 GLTPD2 ZMYND15 PFN1 NUP88 LOC102724009 LOC400568 MED11 LOC101559451 RPAIN PLD2
dgv3089n100	Chr.17:5187013 - 5327634 on Build GRCh38	Gain	RABEP1 SCIMP ZNF594 LOC100130950
nsv1142211	Chr.17:5232348 - 5232400 on Build GRCh38	Tandem Duplication	SCIMP LOC100130950
esv6556	Chr.17:5232204 - 5232400 on Build GRCh38	Gain	SCIMP LOC100130950
nsv952114	Chr.17:5228306 - 5237005 on Build GRCh38	Deletion	SCIMP LOC100130950
esv3302906	Chr.17:5232349 - 5232454 on Build GRCh38	Tandem Duplication	SCIMP 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