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 7 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
EGLN2 | NM_053046.3 | 6 | 1971 | NP_444274.1 |
NM_080732.3 | 6 | 1881 | NP_542770.2 | |
AA994838.1 | 1 | 305 | ||
AJ310544.1 | 5 | 1823 | CAC42510.1 | |
AK025396.1 | 2 | 402 | ||
AK026863.1 | 3 | 1126 | ||
AK074408.1 | 6 | 1810 | ||
AK098182.1 | 5 | 2555 | ||
AL133009.1 | 3 | 3629 | CAB61353.1 | |
AL832506.1 | 6 | 1837 | ||
AY040565.1 | 5 | 1815 | AAK82943.1 | |
BC001723.1 | 6 | 1784 | AAH01723.1 | |
BC036051.1 | 6 | 1885 | 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 12 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
RAB4B-EGLN2 | NR_037791.1 | 12 | 2575 | |
AK291385.1 | 12 | 2523 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv521459 | Chr.19:40807297 - 40827379 on Build GRCh38 | Loss | EGLN2 RAB4B-EGLN2 CYP2T1P |
nsv833832 | Chr.19:40754458 - 40828692 on Build GRCh38 | Loss | RAB4B SNRPA MIA-RAB4B EGLN2 RAB4B-EGLN2 MIA CYP2T1P |
nsv1066637 | Chr.19:40803306 - 41091991 on Build GRCh38 | Gain | CYP2B7P EGLN2 RAB4B-EGLN2 CYP2A6 CYP2A13 CYP2B6 CYP2A7 CYP2G1P CYP2A7P1 CYP2T1P |
esv2758762 | Chr.19:40785722 - 41040163 on Build GRCh38 | Gain+Loss | CYP2B7P RAB4B MIA-RAB4B EGLN2 RAB4B-EGLN2 CYP2A6 CYP2B6 CYP2A7 CYP2G1P CYP2A7P1 CYP2T1P |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |