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 |
---|---|---|---|
nsv428336 | Chr.17:18927239 - 19288734 on Build GRCh38 | Gain+Loss | LOC79999 SNORD3B-1 SNORD3D SNORD3A FAM83G GRAP SNORD3B-2 EPN2-IT1 PRPSAP2 LOC102724624 LOC388436 SNORD3C SLC5A10 EPN2 GRAPL |
esv33572 | Chr.17:18919047 - 19291177 on Build GRCh38 | Gain | LOC79999 SNORD3B-1 SNORD3D SNORD3A FAM83G GRAP SNORD3B-2 EPN2-IT1 PRPSAP2 LOC102724624 LOC388436 SNORD3C SLC5A10 EPN2 GRAPL |
esv2758678 | Chr.17:18927303 - 19288734 on Build GRCh38 | Gain+Loss | LOC79999 SNORD3B-1 SNORD3D SNORD3A FAM83G GRAP SNORD3B-2 EPN2-IT1 PRPSAP2 LOC102724624 LOC388436 SNORD3C SLC5A10 EPN2 GRAPL |
nsv833393 | Chr.17:19146950 - 19361795 on Build GRCh38 | Gain+Loss | LOC79999 EPN2-IT1 EPN2-AS1 B9D1 SNORD3A LOC388436 SNORD3C MIR1180 EPN2 GRAPL |
nsv2001 | Chr.17:19071255 - 19268498 on Build GRCh38 | Deletion | LOC79999 SNORD3D SNORD3A LOC102724624 LOC388436 SNORD3C EPN2 GRAPL |
nsv1061317 | Chr.17:19047542 - 20322438 on Build GRCh38 | Gain | SPECC1 SNORD3B-1 ALDH3A1 EPN2-AS1 AKAP10 CCDC144CP SLC47A1 SLC47A2 LOC100131943 ULK2 B9D1 LOC102724624 LOC388436 RNF112 MIR1180 LOC79999 SNORD3D SNORD3A GRAP SNORA59B SNORD3B-2 MFAP4 EPN2-IT1 MAPK7 ALDH3A2 SNORD3C RPS2P46 EPN2 GRAPL |
dgv895e212 | Chr.17:19019105 - 19248776 on Build GRCh38 | Loss | LOC79999 SNORD3B-1 SNORD3D SNORD3A LOC102724624 GRAP LOC388436 SNORD3C SNORD3B-2 SLC5A10 EPN2 GRAPL |
nsv833391 | Chr.17:18906887 - 19238887 on Build GRCh38 | Loss | LOC79999 SNORD3B-1 SNORD3D SNORD3A FAM83G GRAP SNORD3B-2 PRPSAP2 LOC102724624 LOC388436 SNORD3C SLC5A10 EPN2 GRAPL |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |