Assay Details
Target Gene Details
Entrez Gene ID: | 1889 |
Gene Name: | endothelin converting enzyme 1 |
Gene Aliases: |
ECE |
Location: |
Chr.1:21217247-21345541 on Build GRCh38 |
Assay Gene Location: | Overlaps Intron 23 - Exon 24 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ECE1 | NM_001113347.1 | NP_001106818.1 | ||
NM_001113348.1 | NP_001106819.1 | |||
NM_001113349.1 | NP_001106820.1 | |||
NM_001397.2 | NP_001388.1 | |||
XM_006710398.2 | XP_006710461.1 | |||
XM_011540872.2 | XP_011539174.1 | |||
XM_011540873.2 | XP_011539175.1 | |||
XM_017000511.1 | XP_016856000.1 | |||
AB031742.1 | BAA83687.1 | |||
AK123231.1 | 1 | 531 | ||
AK290656.1 | ||||
AK296486.1 | ||||
AK304167.1 | ||||
BC117256.1 | ||||
BC126257.1 | ||||
BX648351.1 | ||||
D43698.1 | BAA07800.1 | |||
D49471.1 | BAA08442.1 | |||
DA436879.1 | ||||
Z35307.1 | CAA84548.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv834380 | Chr.1:21072777 - 21247948 on Build GRCh38 | Gain | ECE1 EIF4G3 |
nsv545735 | Chr.1:21215242 - 21221575 on Build GRCh38 | Loss | ECE1 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |