Hs05491217_cn

• Gene Symbol: LOC100130950
• Assay Reference Genome Location: Chr.17:5227712 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
nsv574273	Chr.17:4585589 - 5460332 on Build GRCh38	Gain	MED11 LOC400568 C1QBP CAMTA2 MIR6864 VMO1 MIR6865 C17orf107 RNF167 LOC107984973 DHX33 ARRB2 SLC52A1 NUP88 PELP1 LOC101928000 ZMYND15 USP6 PLD2 GLTPD2 RPAIN RABEP1 ENO3 ZNF594 SPAG7 ZFP3 SLC25A11 MINK1 LOC100130950 LOC101927979 TM4SF5 PFN1 ALOX15 INCA1 PSMB6 ZNF232 GP1BA LOC102724009 KIF1C LOC101559451 CHRNE CXCL16 SMTNL2 SCIMP
dgv3089n100	Chr.17:5187013 - 5327634 on Build GRCh38	Gain	RABEP1 ZNF594 LOC100130950 SCIMP

More Information

Additional Information:

For this assay, SNP(s) [rs150674675] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• 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