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 | GRAPL LOC102724624 SNORD3B-2 GRAP SNORD3B-1 PRPSAP2 SNORD3C EPN2-IT1 SLC5A10 SNORD3A SNORD3D FAM83G LOC79999 EPN2 LOC388436 |
esv33572 | Chr.17:18919047 - 19291177 on Build GRCh38 | Gain | GRAPL LOC102724624 SNORD3B-2 GRAP SNORD3B-1 PRPSAP2 SNORD3C EPN2-IT1 SLC5A10 SNORD3A SNORD3D FAM83G LOC79999 EPN2 LOC388436 |
esv2758678 | Chr.17:18927303 - 19288734 on Build GRCh38 | Gain+Loss | GRAPL LOC102724624 SNORD3B-2 GRAP SNORD3B-1 PRPSAP2 SNORD3C EPN2-IT1 SLC5A10 SNORD3A SNORD3D FAM83G LOC79999 EPN2 LOC388436 |
nsv833393 | Chr.17:19146950 - 19361795 on Build GRCh38 | Gain+Loss | EPN2-AS1 MIR1180 GRAPL B9D1 SNORD3C EPN2-IT1 LOC79999 EPN2 SNORD3A LOC388436 |
nsv2001 | Chr.17:19071255 - 19268498 on Build GRCh38 | Deletion | SNORD3D GRAPL LOC102724624 SNORD3C LOC79999 EPN2 SNORD3A LOC388436 |
esv3582561 | Chr.17:19240831 - 19585268 on Build GRCh38 | Loss | EPN2-AS1 MIR1180 B9D1 RNF112 SNORA59B RPS2P46 MAPK7 SLC47A1 EPN2-IT1 MFAP4 EPN2 |
nsv1061317 | Chr.17:19047542 - 20322438 on Build GRCh38 | Gain | GRAPL GRAP SNORD3B-1 SNORA59B RPS2P46 SNORD3C SNORD3A EPN2-AS1 SNORD3D SPECC1 SLC47A1 AKAP10 MFAP4 ALDH3A1 LOC100131943 SLC47A2 LOC102724624 SNORD3B-2 EPN2-IT1 MIR1180 ULK2 B9D1 CCDC144CP RNF112 ALDH3A2 MAPK7 LOC79999 EPN2 LOC388436 |
More Information
Additional Information:
For this assay, SNP(s) [rs78230735] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |