Assay Details
Target Gene Details
Entrez Gene ID: | 83693 |
Gene Name: | hydroxysteroid dehydrogenase like 1 |
Gene Aliases: |
SDR12C3 |
Location: |
Chr.16:84122139-84145195 on Build GRCh38 |
Assay Gene Location: | Within Exon 7 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
HSDL1 | NM_001146051.1 | 7 | 2173 | NP_001139523.1 |
NM_031463.4 | 6 | 2338 | NP_113651.4 | |
XM_005256189.2 | 6 | 2306 | XP_005256246.1 | |
AK025626.1 | 2 | 1449 | ||
AK074878.1 | 6 | 2302 | BAC11262.1 | |
AK098199.1 | 1 | 1736 | ||
AY028377.1 | 5 | 2202 | AAK16927.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv833309 | Chr.16:84076867 - 84248591 on Build GRCh38 | Loss | MBTPS1 DNAAF1 LOC729887 TAF1C ADAD2 KCNG4 HSDL1 |
nsv1065790 | Chr.16:83830329 - 84243597 on Build GRCh38 | Loss | MLYCD MBTPS1 DNAAF1 LOC729887 LOC105371371 TAF1C ADAD2 NECAB2 OSGIN1 KCNG4 SLC38A8 HSDL1 |
esv2761930 | Chr.16:84007420 - 84312461 on Build GRCh38 | Gain | LOC105376777 MBTPS1 DNAAF1 LOC729887 WFDC1 TAF1C ADAD2 KCNG4 SLC38A8 HSDL1 |
nsv1059227 | Chr.16:84029323 - 84233403 on Build GRCh38 | Loss | MBTPS1 DNAAF1 LOC729887 TAF1C ADAD2 KCNG4 SLC38A8 HSDL1 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |