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System Message

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Gene Symbol: EPS8L1
Assay Reference Genome Location: Chr.19:55082166 on build GRCh38
Cytoband: 19q13.42

Assay ID

Hs02688525_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 11 - Intron 11

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	2	283
	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	PPP1R12C RDH13 EPS8L1
esv3644829	Chr.19:55030893 - 55138732 on Build GRCh38	Gain	GP6 TNNT1 PPP1R12C RDH13 MIR7975 EPS8L1
esv2667609	Chr.19:54472514 - 55094226 on Build GRCh38	Deletion	KIR3DL2 MIR8061 LILRA1 KIR3DL3 LAIR2 KIR3DX1 LOC102724300 PPP1R12C KIR2DL3 GP6 RDH13 NCR1 CDC42EP5 LILRB1 LILRB4 KIR2DL1 KIR2DL4 KIR2DS4 LILRP2 FCAR LOC101928804 NLRP7 KIR3DL1 NLRP2 LILRA2 EPS8L1
esv3893251	Chr.19:55079303 - 55094733 on Build GRCh38	Loss	PPP1R12C EPS8L1
esv2758772	Chr.19:55026094 - 55139319 on Build GRCh38	Gain	GP6 TNNT1 PPP1R12C RDH13 MIR7975 EPS8L1
nsv817875	Chr.19:55070143 - 55090747 on Build GRCh38	Loss	EPS8L1
esv2718872	Chr.19:54472594 - 55094247 on Build GRCh38	Deletion	KIR3DL2 MIR8061 LILRA1 KIR3DL3 LAIR2 KIR3DX1 LOC102724300 PPP1R12C KIR2DL3 GP6 RDH13 NCR1 CDC42EP5 LILRB1 LILRB4 KIR2DL1 KIR2DL4 KIR2DS4 LILRP2 FCAR LOC101928804 NLRP7 KIR3DL1 NLRP2 LILRA2 EPS8L1

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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