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