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: | Overlaps - Exon 7 |
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 | |||
AK057436.1 | BAB71486.1 | |||
BC004929.1 | AAH04929.1 | |||
CA413388.1 | ||||
DB336146.1 |
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 | BCKDK CTF1 ZNF668 FBXL19-AS1 MIR762HG SETD1A ORAI3 HSD3B7 ZNF646 MIR762 STX4 BCL7C LOC101928762 PRSS8 PRSS53 FUS KAT8 STX1B FBXL19 PRSS36 VKORC1 |
dgv35n68 | Chr.16:30833730 - 31036730 on Build GRCh38 | Loss | CTF1 STX4 MIR4519 BCL7C FBXL19-AS1 MIR762HG SETD1A ORAI3 HSD3B7 STX1B FBXL19 MIR762 |
nsv833193 | Chr.16:30949475 - 31122283 on Build GRCh38 | Gain+Loss | BCKDK ZNF668 STX4 LOC101928762 SETD1A PRSS53 KAT8 ORAI3 HSD3B7 STX1B VKORC1 ZNF646 |
nsv953802 | Chr.16:30876680 - 30999279 on Build GRCh38 | Deletion | CTF1 BCL7C FBXL19-AS1 MIR762HG SETD1A ORAI3 HSD3B7 STX1B FBXL19 MIR762 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |