Assay Details
Target Gene Details
Entrez Gene ID: | 2516 |
Gene Name: | nuclear receptor subfamily 5 group A member 1 |
Gene Aliases: |
AD4BP, ELP, FTZ1, FTZF1, POF7, SF-1, SF1, SPGF8, SRXY3, hSF-1 |
Location: |
Chr.9:124481234-124507420 on Build GRCh38 |
Assay Gene Location: | Within Exon 9 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
NR5A1 | NM_004959.4 | 7 | 1529 | NP_004950.2 |
XM_005251871.3 | 7 | 1557 | XP_005251928.1 | |
XM_011518455.2 | 7 | 1407 | XP_011516757.1 | |
AB307718.1 | 6 | 1342 | ||
AK090858.1 | 2 | 975 | ||
BC032501.1 | 7 | 1529 | AAH32501.1 | |
HQ692856.1 | 6 | 1342 | ||
HQ709184.1 | 5 | 1222 | ||
U76388.1 | 6 | 1357 | AAB53105.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv526209 | Chr.9:124470928 - 124531906 on Build GRCh38 | Gain | NR6A1 NR5A1 ADGRD2 |
nsv950942 | Chr.9:124466322 - 124513521 on Build GRCh38 | Deletion | NR5A1 ADGRD2 |
esv3621722 | Chr.9:124378965 - 124497390 on Build GRCh38 | Gain | NR5A1 ADGRD2 PSMB7 |
nsv466559 | Chr.9:124467839 - 124526939 on Build GRCh38 | Loss | NR6A1 NR5A1 ADGRD2 |
nsv466558 | Chr.9:124464413 - 124557925 on Build GRCh38 | Loss | NR6A1 NR5A1 ADGRD2 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |