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 | 1125 | NP_001136249.1 |
NM_001142778.1 | 6 | 932 | NP_001136250.1 | |
NM_025193.3 | 7 | 1095 | NP_079469.2 | |
XM_005255601.3 | 7 | 1076 | XP_005255658.2 | |
XM_011545960.2 | 7 | 1273 | XP_011544262.1 | |
XM_011545961.1 | 7 | 1279 | XP_011544263.1 | |
XM_011545962.2 | 6 | 913 | XP_011544264.1 | |
XM_017023732.1 | 6 | 1094 | XP_016879221.1 | |
AF277719.1 | 6 | 1007 | AAG37824.1 | |
AK057436.1 | 6 | 1116 | BAB71486.1 | |
AK290950.1 | 6 | 886 | ||
AK292068.1 | ||||
BC004929.1 | 7 | 1082 | 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 | MIR762HG FBXL19-AS1 STX1B BCL7C FBXL19 BCKDK ORAI3 FUS STX4 PRSS36 KAT8 VKORC1 SETD1A LOC101928762 HSD3B7 CTF1 MIR762 ZNF668 ZNF646 PRSS53 PRSS8 |
dgv35n68 | Chr.16:30833730 - 31036730 on Build GRCh38 | Loss | MIR762HG FBXL19-AS1 ORAI3 STX4 SETD1A STX1B HSD3B7 BCL7C CTF1 MIR762 MIR4519 FBXL19 |
nsv833193 | Chr.16:30949475 - 31122283 on Build GRCh38 | Gain+Loss | BCKDK ORAI3 STX4 KAT8 VKORC1 SETD1A LOC101928762 STX1B HSD3B7 ZNF668 ZNF646 PRSS53 |
nsv953802 | Chr.16:30876680 - 30999279 on Build GRCh38 | Deletion | MIR762HG FBXL19-AS1 ORAI3 SETD1A STX1B HSD3B7 BCL7C CTF1 MIR762 FBXL19 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |