Genomic Map
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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
|
Back To TopMore Information
Set Membership: |
Intragenic
Exonic
DGV Variation
|
Panther Classification:
Gene Ontology Categories:
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