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 5 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
EGLN2 | NM_053046.3 | 4 | 1465 | NP_444274.1 |
NM_080732.3 | 4 | 1375 | NP_542770.2 | |
AJ310544.1 | 3 | 1317 | CAC42510.1 | |
AK026863.1 | 2 | 411 | ||
AK074408.1 | 4 | 1304 | ||
AK098182.1 | 3 | 2049 | ||
AL133009.1 | 1 | 3123 | CAB61353.1 | |
AL832506.1 | 4 | 1331 | ||
AY040565.1 | 3 | 1309 | AAK82943.1 | |
BC001723.1 | 4 | 1278 | AAH01723.1 | |
BC036051.1 | 4 | 1379 | 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 10 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
RAB4B-EGLN2 | NR_037791.1 | 10 | 2069 | |
AK291385.1 | 10 | 2017 |
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 |
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nsv1066637 | Chr.19:40803306 - 41091991 on Build GRCh38 | Gain |
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esv2758762 | Chr.19:40785722 - 41040163 on Build GRCh38 | Gain+Loss |
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![](/order/genome-database/details/genotyping/assets/img/arrow_icon_up_black.png)
More Information
Set Membership: |
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Gene Ontology Categories:
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