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See other BSCL2 CNV Assays ›
Gene Symbol
BSCL2
Assay Reference Genome
Location

Chr.11:62707253 on build GRCh38
Cytoband
11q12.3
Assay ID Hs02503797_cn
Size
Availability Made To Order
Catalog # 4400291
Price
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Assay Details

Target Gene Details

Entrez Gene ID:

 26580

Gene Name:

 BSCL2, seipin lipid droplet biogenesis associated

Gene Aliases:

 GNG3LG, HMN5, PELD, SPG17

Location:

 Chr.11:62690262-62709619 on Build GRCh38

Assay Gene Location:

 Within Exon 2
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
BSCL2 NM_001122955.3 1 455 NP_001116427.1
NR_037948.1 2 545
NR_037949.1 2 545
AF052149.1 1 95
AK223606.1 1 146 BAD97326.1
AK315423.1 2 462
BC093048.1 AAH93048.1
BG699373.1 1 465
BP370169.1 2 544
DB178846.1 1 476

Target Gene Details

Entrez Gene ID:

 2785

Gene Name:

 G protein subunit gamma 3

Gene Aliases:

 -

Location:

 Chr.11:62707255-62709206 on Build GRCh38

Assay Gene Location:

 Overlaps - Exon 1
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
GNG3 XM_006718500.2 XP_006718563.1

Target Gene Details

Entrez Gene ID:

 100534595

Gene Name:

 HNRNPUL2-BSCL2 readthrough (NMD candidate)

Gene Aliases:

 -

Location:

 Chr.11:62690262-62727384 on Build GRCh38

Assay Gene Location:

 Within Exon 14
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
HNRNPUL2-BSCL2 NR_037946.1 14 2463
AK122942.1 14 2463
CN346952.1 2 167

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv348 Chr.11:62706978 - 62752240 on Build GRCh38 Deletion ZBTB3 HNRNPUL2 BSCL2 HNRNPUL2-BSCL2 TTC9C GNG3
nsv555174 Chr.11:62566624 - 62729047 on Build GRCh38 Gain ROM1 HNRNPUL2 INTS5 UQCC3 BSCL2 MIR6747 MTA2 HNRNPUL2-BSCL2 EML3 GNG3 SNORA57 LRRN4CL EEF1G LBHD1 GANAB METTL12 C11orf98 UBXN1 TTC9C TUT1 B3GAT3

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