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 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
HSD3B7 | NM_001142777.1 | 2 | 381 | NP_001136249.1 |
NM_001142778.1 | 2 | 188 | NP_001136250.1 | |
NM_025193.3 | 2 | 188 | NP_079469.2 | |
XM_005255601.3 | 2 | 169 | XP_005255658.2 | |
XM_011545960.2 | 2 | 366 | XP_011544262.1 | |
XM_011545961.1 | 2 | 372 | XP_011544263.1 | |
XM_011545962.2 | 2 | 169 | XP_011544264.1 | |
XM_017023732.1 | 2 | 350 | XP_016879221.1 | |
AF277719.1 | 1 | 100 | AAG37824.1 | |
AK057436.1 | 2 | 372 | BAB71486.1 | |
AK290950.1 | 2 | 142 | ||
AK292068.1 | 2 | 332 | ||
BC004929.1 | 2 | 175 | 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 | ZNF668 MIR762HG SETD1A CTF1 STX4 PRSS53 HSD3B7 VKORC1 PRSS8 PRSS36 BCKDK STX1B BCL7C KAT8 MIR762 ORAI3 LOC101928762 FBXL19-AS1 FUS ZNF646 FBXL19 |
dgv35n68 | Chr.16:30833730 - 31036730 on Build GRCh38 | Loss | STX1B BCL7C MIR762HG MIR4519 SETD1A MIR762 ORAI3 CTF1 FBXL19-AS1 STX4 FBXL19 HSD3B7 |
nsv833193 | Chr.16:30949475 - 31122283 on Build GRCh38 | Gain+Loss | ZNF668 BCKDK STX1B KAT8 SETD1A ORAI3 LOC101928762 STX4 PRSS53 ZNF646 HSD3B7 VKORC1 |
nsv953802 | Chr.16:30876680 - 30999279 on Build GRCh38 | Deletion | STX1B BCL7C MIR762HG SETD1A MIR762 ORAI3 CTF1 FBXL19-AS1 FBXL19 HSD3B7 |
More Information
Additional Information:
For this assay, SNP(s) [rs201796375] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.
Set Membership: |
Intragenic Exonic DGV Variation |