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 | 1899 | NP_001136249.1 |
NM_001142778.1 | 6 | 1706 | NP_001136250.1 | |
NM_025193.3 | 7 | 1869 | NP_079469.2 | |
XM_005255601.3 | 7 | 1850 | XP_005255658.2 | |
XM_011545960.2 | 7 | 2047 | XP_011544262.1 | |
XM_011545961.1 | 7 | 2053 | XP_011544263.1 | |
XM_011545962.2 | 6 | 1687 | XP_011544264.1 | |
XM_017023732.1 | 6 | 1868 | XP_016879221.1 | |
AK057436.1 | 6 | 1890 | BAB71486.1 | |
BC004929.1 | 7 | 1856 | AAH04929.1 | |
BM744211.1 | 1 | 438 | ||
CA413388.1 | 1 | 335 | ||
DB336146.1 | 1 | 311 |
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 BCL7C ZNF646 PRSS8 HSD3B7 CTF1 VKORC1 LOC101928762 ZNF668 KAT8 PRSS36 MIR762 ORAI3 SETD1A FBXL19-AS1 FBXL19 FUS STX1B PRSS53 MIR762HG STX4 |
dgv35n68 | Chr.16:30833730 - 31036730 on Build GRCh38 | Loss | MIR4519 BCL7C MIR762 ORAI3 SETD1A FBXL19-AS1 FBXL19 STX1B HSD3B7 CTF1 MIR762HG STX4 |
nsv833193 | Chr.16:30949475 - 31122283 on Build GRCh38 | Gain+Loss | BCKDK ZNF646 ORAI3 SETD1A STX1B HSD3B7 PRSS53 VKORC1 LOC101928762 ZNF668 STX4 KAT8 |
nsv953802 | Chr.16:30876680 - 30999279 on Build GRCh38 | Deletion | BCL7C MIR762 ORAI3 SETD1A FBXL19-AS1 FBXL19 STX1B HSD3B7 CTF1 MIR762HG |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |