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System Message

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Gene Symbol: EPS8L1
Assay Reference Genome Location: Chr.19:55081813 on build GRCh38
Cytoband: 19q13.42

Assay ID

Hs00957220_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 Intron 9 - Exon 10

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
	AF370395.1			AAQ15231.1
	AK000265.1			BAA91041.1
	AK057052.1	1	122
	AK075098.1			BAC11399.1
	AK296732.1
	AK301615.1
	AK309305.1
	AK309908.1
	AY074928.1			AAL76117.1
	BC004907.2			AAH04907.2
	BC015763.1			AAH15763.1
	DB018703.1

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

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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