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See other HSD3B7 CNV Assays ›
Gene Symbol
HSD3B7
Assay Reference Genome
Location

Chr.16:30987780 on build GRCh38
Cytoband
16p11.2
Assay ID Hs00469827_cn
Size
Availability Made To Order
Catalog # 4400291
Price
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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 Intron 6 - 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
AF277719.1 AAG37824.1
AK057436.1 BAB71486.1
AK290950.1
AK292068.1
BC004929.1 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 PRSS53 MIR762HG MIR762 BCKDK HSD3B7 VKORC1 LOC101928762 FUS PRSS36 STX4 CTF1 KAT8 FBXL19-AS1 BCL7C ORAI3 STX1B PRSS8 ZNF646 ZNF668 FBXL19 SETD1A
dgv35n68 Chr.16:30833730 - 31036730 on Build GRCh38 Loss MIR762HG MIR4519 STX4 MIR762 CTF1 FBXL19-AS1 BCL7C ORAI3 HSD3B7 STX1B FBXL19 SETD1A
nsv833193 Chr.16:30949475 - 31122283 on Build GRCh38 Gain+Loss PRSS53 STX4 KAT8 BCKDK ORAI3 HSD3B7 STX1B VKORC1 LOC101928762 ZNF646 ZNF668 SETD1A
nsv953802 Chr.16:30876680 - 30999279 on Build GRCh38 Deletion MIR762HG MIR762 CTF1 FBXL19-AS1 BCL7C ORAI3 HSD3B7 STX1B FBXL19 SETD1A

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