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 Intron 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
HSDL1 | NM_001146051.1 | NP_001139523.1 | ||
NM_031463.4 | NP_113651.4 | |||
XM_005256189.2 | XP_005256246.1 | |||
AK074878.1 | BAC11262.1 | |||
AK299798.1 | ||||
BC018084.1 | AAH18084.2 | |||
DC306668.1 |
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 | KCNG4 HSDL1 MBTPS1 TAF1C DNAAF1 ADAD2 LOC729887 |
nsv1065790 | Chr.16:83830329 - 84243597 on Build GRCh38 | Loss | SLC38A8 KCNG4 HSDL1 MBTPS1 OSGIN1 TAF1C MLYCD DNAAF1 ADAD2 LOC105371371 LOC729887 NECAB2 |
esv2761930 | Chr.16:84007420 - 84312461 on Build GRCh38 | Gain | SLC38A8 KCNG4 HSDL1 MBTPS1 TAF1C LOC105376777 DNAAF1 ADAD2 WFDC1 LOC729887 |
nsv1059227 | Chr.16:84029323 - 84233403 on Build GRCh38 | Loss | SLC38A8 KCNG4 HSDL1 MBTPS1 TAF1C DNAAF1 ADAD2 LOC729887 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |