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

Chr.11:62707875 on build GRCh38
Cytoband
11q12.3
Assay ID Hs02034331_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 Intron 1
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
BSCL2 NR_037948.1
NR_037949.1
AK315423.1
BP370169.1

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 2 - Intron 2
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
GNG3 NM_012202.4 NP_036334.1
XM_006718500.2 XP_006718563.1
AF087900.1 AAP97199.1
AF092129.1 AAD40371.1
AK311933.1
BC015563.2 AAH15563.1
CK004020.1
DA123305.1

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 Intron 13
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
HNRNPUL2-BSCL2 NR_037946.1
AK122942.1
CN346952.1

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 HNRNPUL2-BSCL2 TTC9C GNG3 BSCL2 HNRNPUL2 ZBTB3
nsv555174 Chr.11:62566624 - 62729047 on Build GRCh38 Gain ROM1 INTS5 TTC9C GNG3 EEF1G BSCL2 HNRNPUL2 HNRNPUL2-BSCL2 B3GAT3 METTL12 MIR6747 SNORA57 C11orf98 GANAB UQCC3 LRRN4CL LBHD1 MTA2 TUT1 UBXN1 EML3

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