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 | 2538 | NP_001139523.1 |
NM_031463.4 | 6 | 2703 | NP_113651.4 | |
XM_005256189.2 | 6 | 2671 | XP_005256246.1 | |
AK025626.1 | 2 | 1814 | ||
AK074878.1 | 6 | 2667 | BAC11262.1 | |
AK098199.1 | 1 | 2101 | ||
AY028377.1 | 5 | 2567 | 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 | KCNG4 MBTPS1 LOC729887 HSDL1 TAF1C ADAD2 DNAAF1 |
nsv1065790 | Chr.16:83830329 - 84243597 on Build GRCh38 | Loss | KCNG4 LOC105371371 MBTPS1 LOC729887 SLC38A8 HSDL1 TAF1C OSGIN1 MLYCD ADAD2 DNAAF1 NECAB2 |
esv2761930 | Chr.16:84007420 - 84312461 on Build GRCh38 | Gain | KCNG4 MBTPS1 LOC729887 SLC38A8 HSDL1 TAF1C ADAD2 DNAAF1 WFDC1 LOC105376777 |
nsv1059227 | Chr.16:84029323 - 84233403 on Build GRCh38 | Loss | KCNG4 MBTPS1 LOC729887 SLC38A8 HSDL1 TAF1C ADAD2 DNAAF1 |
More Information
Additional Information:
For this assay, SNP(s) [rs77571693] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.
Set Membership: |
Intragenic Exonic DGV Variation |