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 Intron 3 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
HSD3B7 | NM_001142777.1 | NP_001136249.1 | ||
NM_001142778.1 | NP_001136250.1 | |||
NM_025193.3 | NP_079469.2 | |||
XM_005255601.3 | XP_005255658.2 | |||
XM_011545960.2 | XP_011544262.1 | |||
XM_011545961.1 | XP_011544263.1 | |||
XM_011545962.2 | XP_011544264.1 | |||
XM_017023732.1 | XP_016879221.1 | |||
AF277719.1 | AAG37824.1 | |||
AK057436.1 | BAB71486.1 | |||
AK290950.1 | ||||
AK292068.1 | ||||
BC004929.1 | AAH04929.1 |
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 ZNF646 HSD3B7 VKORC1 SETD1A MIR762 BCKDK KAT8 FBXL19-AS1 FUS LOC101928762 BCL7C ZNF668 FBXL19 CTF1 PRSS8 PRSS53 PRSS36 STX1B STX4 MIR762HG |
dgv35n68 | Chr.16:30833730 - 31036730 on Build GRCh38 | Loss | BCL7C FBXL19 CTF1 ORAI3 HSD3B7 MIR4519 SETD1A MIR762 STX1B STX4 MIR762HG FBXL19-AS1 |
nsv833193 | Chr.16:30949475 - 31122283 on Build GRCh38 | Gain+Loss | LOC101928762 ZNF668 ORAI3 ZNF646 HSD3B7 VKORC1 PRSS53 SETD1A STX1B STX4 BCKDK KAT8 |
nsv953802 | Chr.16:30876680 - 30999279 on Build GRCh38 | Deletion | BCL7C FBXL19 CTF1 ORAI3 HSD3B7 SETD1A MIR762 STX1B MIR762HG FBXL19-AS1 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |