Assay Details
Target Gene Details
Entrez Gene ID: | 112398 |
Gene Name: | egl-9 family hypoxia inducible factor 2 |
Gene Aliases: |
EIT6, HIF-PH1, HIFPH1, HPH-1, HPH-3, PHD1 |
Location: |
Chr.19:40799143-40808441 on Build GRCh38 |
Assay Gene Location: | Within Exon 3 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| EGLN2 | NM_053046.3 | 2 | 1015 | NP_444274.1 |
| NM_080732.3 | 2 | 925 | NP_542770.2 | |
| AJ310544.1 | 1 | 868 | CAC42510.1 | |
| AK074408.1 | 2 | 854 | ||
| AK098182.1 | 1 | 1599 | ||
| AL832506.1 | 2 | 881 | ||
| AY040565.1 | 1 | 859 | AAK82943.1 | |
| BC001723.1 | 2 | 828 | AAH01723.1 | |
| BC036051.1 | 2 | 929 | AAH36051.1 |
Target Gene Details
Entrez Gene ID: | 100529264 |
Gene Name: | RAB4B-EGLN2 readthrough (NMD candidate) |
Gene Aliases: |
RERT-lncRNA |
Location: |
Chr.19:40778219-40808441 on Build GRCh38 |
Assay Gene Location: | Within Exon 8 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| RAB4B-EGLN2 | NR_037791.1 | 8 | 1619 | |
| AK291385.1 | 8 | 1567 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
| Target Variation |
Location | CNV Subtype |
Genes |
|---|---|---|---|
| nsv833832 | Chr.19:40754458 - 40828692 on Build GRCh38 | Loss |
|
| esv2758762 | Chr.19:40785722 - 41040163 on Build GRCh38 | Gain+Loss |
|
More Information
Set Membership: |
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Genomic Map