Assay Details
Target Gene Details
Entrez Gene ID: | 80270 |
Gene Name: | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 |
Gene Aliases: |
CBAS1, PFIC4, SDR11E3 |
Location: |
Chr.16:30985189-30989152 on Build GRCh38 |
Assay Gene Location: | Within Exon 7 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
HSD3B7 | NM_001142777.1 | 6 | 1750 | NP_001136249.1 |
NM_001142778.1 | 6 | 1557 | NP_001136250.1 | |
NM_025193.3 | 7 | 1720 | NP_079469.2 | |
XM_005255601.3 | 7 | 1701 | XP_005255658.2 | |
XM_011545960.2 | 7 | 1898 | XP_011544262.1 | |
XM_011545961.1 | 7 | 1904 | XP_011544263.1 | |
XM_011545962.2 | 6 | 1538 | XP_011544264.1 | |
XM_017023732.1 | 6 | 1719 | XP_016879221.1 | |
AK057436.1 | 6 | 1741 | BAB71486.1 | |
BC004929.1 | 7 | 1707 | AAH04929.1 | |
BM744211.1 | 1 | 289 | ||
CA413388.1 | 1 | 484 | ||
DB336146.1 | 1 | 460 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv457483 | Chr.16:30892358 - 31180161 on Build GRCh38 | Loss | ORAI3 ZNF668 KAT8 MIR762 SETD1A FBXL19-AS1 STX1B HSD3B7 MIR762HG PRSS53 STX4 ZNF646 PRSS8 CTF1 BCKDK BCL7C FBXL19 LOC101928762 VKORC1 FUS PRSS36 |
dgv35n68 | Chr.16:30833730 - 31036730 on Build GRCh38 | Loss | STX1B ORAI3 HSD3B7 MIR762HG MIR4519 STX4 CTF1 MIR762 SETD1A BCL7C FBXL19-AS1 FBXL19 |
nsv833193 | Chr.16:30949475 - 31122283 on Build GRCh38 | Gain+Loss | STX1B ORAI3 HSD3B7 ZNF668 PRSS53 STX4 KAT8 ZNF646 BCKDK SETD1A LOC101928762 VKORC1 |
nsv953802 | Chr.16:30876680 - 30999279 on Build GRCh38 | Deletion | STX1B ORAI3 HSD3B7 MIR762HG CTF1 MIR762 SETD1A BCL7C FBXL19-AS1 FBXL19 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |