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 | 655 | NP_444274.1 |
NM_080732.3 | 2 | 565 | NP_542770.2 | |
AJ310544.1 | 1 | 508 | CAC42510.1 | |
AK074408.1 | 2 | 494 | ||
AK098182.1 | 1 | 1239 | ||
AL832506.1 | 2 | 521 | ||
AY040565.1 | 1 | 499 | AAK82943.1 | |
BC001723.1 | 2 | 468 | AAH01723.1 | |
BC036051.1 | 2 | 569 | AAH36051.1 | |
BG719538.1 | 2 | 662 | ||
DA300182.1 | ||||
DB049419.1 |
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 | 1259 | |
AK291385.1 | 8 | 1207 |
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 | EGLN2 RAB4B-EGLN2 MIA-RAB4B SNRPA CYP2T1P MIA RAB4B |
esv2758762 | Chr.19:40785722 - 41040163 on Build GRCh38 | Gain+Loss | EGLN2 RAB4B-EGLN2 MIA-RAB4B CYP2G1P CYP2T1P CYP2B6 CYP2A7 CYP2B7P RAB4B CYP2A7P1 CYP2A6 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |