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System Message

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Gene Symbol: EPS8L1
Assay Reference Genome Location: Chr.19:55084212 on build GRCh38
Cytoband: 19q13.42

Assay ID

Hs04031080_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 15 - Intron 15

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
	AK309908.1	13	1861
	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 EPS8L1 RDH13
esv2667609	Chr.19:54472514 - 55094226 on Build GRCh38	Deletion	FCAR LILRB1 LILRP2 EPS8L1 KIR3DX1 KIR2DL3 KIR2DS4 LOC101928804 KIR2DL1 RDH13 NLRP7 KIR2DL4 MIR8061 PPP1R12C LILRA1 LILRB4 NCR1 KIR3DL2 KIR3DL3 LILRA2 LOC102724300 LAIR2 NLRP2 GP6 KIR3DL1 CDC42EP5
esv3644829	Chr.19:55030893 - 55138732 on Build GRCh38	Gain	PPP1R12C MIR7975 TNNT1 EPS8L1 GP6 RDH13
esv3893251	Chr.19:55079303 - 55094733 on Build GRCh38	Loss	PPP1R12C EPS8L1
esv34356	Chr.19:55026094 - 55139319 on Build GRCh38	Gain	PPP1R12C MIR7975 TNNT1 EPS8L1 GP6 RDH13
nsv817875	Chr.19:55070143 - 55090747 on Build GRCh38	Loss	EPS8L1
esv2718872	Chr.19:54472594 - 55094247 on Build GRCh38	Deletion	FCAR LILRB1 LILRP2 EPS8L1 KIR3DX1 KIR2DL3 KIR2DS4 LOC101928804 KIR2DL1 RDH13 NLRP7 KIR2DL4 MIR8061 PPP1R12C LILRA1 LILRB4 NCR1 KIR3DL2 KIR3DL3 LILRA2 LOC102724300 LAIR2 NLRP2 GP6 KIR3DL1 CDC42EP5

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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