Genomic Map
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Target Gene Details
Entrez Gene ID: | 54583 |
Gene Name: | egl-9 family hypoxia inducible factor 1 |
Gene Aliases: |
C1orf12, ECYT3, HALAH, HIF-PH2, HIFPH2, HPH-2, HPH2, PHD2, SM20, ZMYND6 |
Location: |
Chr.1:231363751-231425044 on Build GRCh38 |
Assay Gene Location: | Within Intron 1 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| EGLN1 | NM_022051.2 | NP_071334.1 | ||
| XM_005273166.4 | XP_005273223.1 | |||
| XM_005273167.4 | XP_005273224.1 | |||
| AF229245.1 | AAG33965.1 | |||
| AF277174.1 | AAK07534.1 | |||
| AJ310543.1 | CAC42509.1 | |||
| AL833885.1 | CAD38741.2 | |||
| BC005369.1 | AAH05369.1 | |||
| DQ975380.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
| Target Variation |
Location | CNV Subtype |
Genes |
|---|---|---|---|
| nsv1160370 | Chr.1:231399366 - 231414693 on Build GRCh38 | Deletion |
 EGLN1
|
| esv2661110 | Chr.1:231399630 - 231410291 on Build GRCh38 | Deletion |
EGLN1
|
| esv2421419 | Chr.1:231399838 - 231406910 on Build GRCh38 | Deletion |
EGLN1
|
| esv3589111 | Chr.1:231399619 - 231410298 on Build GRCh38 | Loss |
EGLN1
|
| nsv827208 | Chr.1:231399702 - 231410217 on Build GRCh38 | Loss |
EGLN1
|
| esv2724861 | Chr.1:231399628 - 231410280 on Build GRCh38 | Deletion |
EGLN1
|
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Set Membership: |
Intragenic
Intronic
Non-exonic
DGV Variation
|
Gene Ontology Categories:
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