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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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Availability	Made To Order
Catalog #	4400291
Price	475.00
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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	PPP1R12C RDH13 EPS8L1
esv3644829	Chr.19:55030893 - 55138732 on Build GRCh38	Gain	MIR7975 PPP1R12C RDH13 GP6 EPS8L1 TNNT1
esv2667609	Chr.19:54472514 - 55094226 on Build GRCh38	Deletion	KIR2DL4 LAIR2 CDC42EP5 LILRB4 LILRA1 NLRP2 KIR2DL1 PPP1R12C LOC102724300 EPS8L1 KIR3DL2 FCAR LILRA2 LILRB1 MIR8061 GP6 NCR1 KIR2DL3 NLRP7 KIR3DL3 KIR3DX1 LILRP2 LOC101928804 RDH13 KIR2DS4 KIR3DL1
esv3893251	Chr.19:55079303 - 55094733 on Build GRCh38	Loss	PPP1R12C EPS8L1
esv2758772	Chr.19:55026094 - 55139319 on Build GRCh38	Gain	MIR7975 PPP1R12C RDH13 GP6 EPS8L1 TNNT1
nsv817875	Chr.19:55070143 - 55090747 on Build GRCh38	Loss	EPS8L1
esv2718872	Chr.19:54472594 - 55094247 on Build GRCh38	Deletion	KIR2DL4 LAIR2 CDC42EP5 LILRB4 LILRA1 NLRP2 KIR2DL1 PPP1R12C LOC102724300 EPS8L1 KIR3DL2 FCAR LILRA2 LILRB1 MIR8061 GP6 NCR1 KIR2DL3 NLRP7 KIR3DL3 KIR3DX1 LILRP2 LOC101928804 RDH13 KIR2DS4 KIR3DL1

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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