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See other EPN2 CNV Assays ›
Gene Symbol
EPN2
Assay Reference Genome
Location

Chr.17:19245340 on build GRCh38
Cytoband
17p11.2
Assay ID Hs03979982_cn
Size
Availability Made To Order
Catalog # 4400291
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Assay Details

Target Gene Details

Entrez Gene ID:

 22905

Gene Name:

 epsin 2

Gene Aliases:

 EHB21

Location:

 Chr.17:19237377-19336715 on Build GRCh38

Assay Gene Location:

 Within Intron 1
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
EPN2 NM_001102664.1 NP_001096134.1
NM_014964.4 NP_055779.2
NM_148921.3 NP_683723.2
AB028988.1
AK024115.1 BAB14831.1
AK092366.1
AK295652.1
AK298006.1
AK307455.1
BC070036.1 AAH70036.1
DA220261.1
DC316524.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
esv33572 Chr.17:18919047 - 19291177 on Build GRCh38 Gain PRPSAP2 SNORD3B-1 GRAPL SNORD3B-2 SNORD3A EPN2 SNORD3C EPN2-IT1 GRAP LOC102724624 LOC79999 SLC5A10 LOC388436 FAM83G SNORD3D
nsv428336 Chr.17:18927239 - 19288734 on Build GRCh38 Gain+Loss PRPSAP2 SNORD3B-1 GRAPL SNORD3B-2 SNORD3A EPN2 SNORD3C EPN2-IT1 GRAP LOC102724624 LOC79999 SLC5A10 LOC388436 FAM83G SNORD3D
esv2758678 Chr.17:18927303 - 19288734 on Build GRCh38 Gain+Loss PRPSAP2 SNORD3B-1 GRAPL SNORD3B-2 SNORD3A EPN2 SNORD3C EPN2-IT1 GRAP LOC102724624 LOC79999 SLC5A10 LOC388436 FAM83G SNORD3D
nsv833393 Chr.17:19146950 - 19361795 on Build GRCh38 Gain+Loss B9D1 EPN2-IT1 GRAPL SNORD3A LOC79999 LOC388436 EPN2 MIR1180 EPN2-AS1 SNORD3C
nsv2001 Chr.17:19071255 - 19268498 on Build GRCh38 Deletion GRAPL LOC102724624 SNORD3A LOC79999 LOC388436 EPN2 SNORD3D SNORD3C
esv3582561 Chr.17:19240831 - 19585268 on Build GRCh38 Loss B9D1 SNORA59B EPN2-IT1 RNF112 MFAP4 EPN2 MIR1180 MAPK7 RPS2P46 EPN2-AS1 SLC47A1
nsv1061317 Chr.17:19047542 - 20322438 on Build GRCh38 Gain B9D1 SNORA59B ALDH3A2 SNORD3B-1 SNORD3B-2 SLC47A2 EPN2 MIR1180 RPS2P46 EPN2-AS1 SNORD3C EPN2-IT1 GRAP CCDC144CP LOC79999 SPECC1 RNF112 ULK2 LOC388436 MAPK7 SNORD3D SLC47A1 GRAPL SNORD3A MFAP4 AKAP10 LOC102724624 LOC100131943 ALDH3A1
dgv895e212 Chr.17:19019105 - 19248776 on Build GRCh38 Loss GRAP SNORD3B-1 GRAPL SNORD3B-2 LOC102724624 SNORD3A LOC79999 SLC5A10 LOC388436 EPN2 SNORD3D SNORD3C

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More Information


Set Membership:

 Intragenic Intronic Non-exonic DGV Variation

Gene Ontology Categories:

Function(s) Process(es)


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