Hs04014331_cn

• Gene Symbol: USE1
• Assay Reference Genome Location: Chr.19:17217574 on build GRCh38
• Cytoband: 19p13.11

Target Gene Details

• Entrez Gene ID: 55850
• Gene Name: unconventional SNARE in the ER 1
• Gene Aliases: D12, MDS032, P31, SLT1
• Location: Chr.19:17214528-17219831 on Build GRCh38
• Assay Gene Location: Within Intron 6

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
USE1	NM_018467.3			NP_060937.1
	XM_017026975.1			XP_016882464.1
	XM_017026976.1			XP_016882465.1
	AB097050.1			BAC77403.1
	AF220052.1			AAF67645.1
	AK074683.1	5	522	BAC11136.1
	BC006005.1			AAH06005.1
	BC008455.1			AAH08455.1
	BF448659.1
	BI758045.1
	DA506853.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv458373	Chr.19:17183487 - 17226535 on Build GRCh38	Loss	OCEL1 USE1 MYO9B
nsv470129	Chr.19:17188084 - 17341718 on Build GRCh38	Loss	MRPL34 GTPBP3 DDA1 ANKLE1 ANO8 OCEL1 NR2F6 USHBP1 USE1 MYO9B ABHD8 BABAM1

More Information

Additional Information:

For this assay, SNP(s) [rs142501074] 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)

ER to Golgi vesicle-mediated transport
retrograde vesicle-mediated transport, Golgi to ER
lysosomal transport
protein transport
protein catabolic process
secretion by cell

Function(s)

protein binding