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System Message

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Gene Symbol: EPS8L1
Assay Reference Genome Location: Chr.19:55083595 on build GRCh38
Cytoband: 19q13.42

Assay ID

Hs00496174_cn

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Catalog #	4400291
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Genomic Map
Assay Details
More Information

Assay Details

Target Gene Details

Entrez Gene ID:	54869
Gene Name:	EPS8 like 1
Gene Aliases:	DRC3, EPS8R1, PP10566
Location:	Chr.19:55075853-55087923 on Build GRCh38
Assay Gene Location:	Overlaps Exon 14 - Intron 14

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
EPS8L1	NM_017729.3			NP_060199.3
	NM_133180.2			NP_573441.2
	XM_005259020.1			XP_005259077.1
	XM_011527050.1			XP_011525352.1
	XM_011527051.2			XP_011525353.1
	XM_011527052.2			XP_011525354.1
	AF282167.1			AAG03038.1
	AF370395.1			AAQ15231.1
	AK000265.1			BAA91041.1
	AK057052.1
	AK075098.1			BAC11399.1
	AK296732.1
	AK301615.1
	AK309305.1
	AK309908.1
	AY074928.1			AAL76117.1
	BC004907.2			AAH04907.2
	BC015763.1			AAH15763.1

Target Copy Number Variation Details

DGV Version:

Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv817874	Chr.19:55067334 - 55103555 on Build GRCh38	Loss	RDH13 EPS8L1 PPP1R12C
esv2667609	Chr.19:54472514 - 55094226 on Build GRCh38	Deletion	LILRB1 KIR3DX1 KIR2DS4 NLRP7 LILRB4 KIR2DL4 KIR2DL3 NLRP2 CDC42EP5 GP6 KIR2DL1 RDH13 LILRA1 LAIR2 PPP1R12C KIR3DL3 LOC101928804 KIR3DL1 KIR3DL2 LILRA2 NCR1 LILRP2 LOC102724300 FCAR EPS8L1 MIR8061
esv3644829	Chr.19:55030893 - 55138732 on Build GRCh38	Gain	RDH13 TNNT1 EPS8L1 MIR7975 GP6 PPP1R12C
esv3893251	Chr.19:55079303 - 55094733 on Build GRCh38	Loss	EPS8L1 PPP1R12C
esv34356	Chr.19:55026094 - 55139319 on Build GRCh38	Gain	RDH13 TNNT1 EPS8L1 MIR7975 GP6 PPP1R12C
nsv817875	Chr.19:55070143 - 55090747 on Build GRCh38	Loss	EPS8L1
esv2718872	Chr.19:54472594 - 55094247 on Build GRCh38	Deletion	LILRB1 KIR3DX1 KIR2DS4 NLRP7 LILRB4 KIR2DL4 KIR2DL3 NLRP2 CDC42EP5 GP6 KIR2DL1 RDH13 LILRA1 LAIR2 PPP1R12C KIR3DL3 LOC101928804 KIR3DL1 KIR3DL2 LILRA2 NCR1 LILRP2 LOC102724300 FCAR EPS8L1 MIR8061

More Information

Set Membership:

Intragenic

Non-exonic

DGV Variation

Panther Classification:

Molecular Function -

scaffold/adaptor protein

Gene Ontology Categories:

Function(s) Process(es)

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