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

Chr.11:62691353 on build GRCh38
Cytoband
11q12.3
Assay ID Hs01494253_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 9
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
BSCL2 NM_001122955.3 7 1444 NP_001116427.1
NM_001130702.2 NP_001124174.2
NM_032667.6 7 958 NP_116056.3
NR_037948.1 8 1534
NR_037949.1 8 1534
AF052149.1 7 1084
AK027524.1 BAB55175.1
AK075317.1 7 941 BAC11543.1
AK223606.1 7 1135 BAD97326.1
AK225029.1 7 939
AK315423.1 8 1451
BC004911.2 7 937 AAH04911.1
BC012140.1 7 928 AAH12140.1
BC041640.1 7 910 AAH41640.1
BC093048.1 7 993 AAH93048.1
KU178595.1 6 740
KU178596.1 5 658

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 20
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
HNRNPUL2-BSCL2 NR_037946.1 20 3452
AK122942.1 20 3452

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv832182 Chr.11:62528103 - 62695376 on Build GRCh38 Gain+Loss UBXN1 C11orf98 LRRN4CL INTS5 GANAB ROM1 UQCC3 EEF1G SNORA57 B3GAT3 LBHD1 AHNAK TUT1 HNRNPUL2-BSCL2 EML3 METTL12 MIR6747 BSCL2 MTA2
nsv555174 Chr.11:62566624 - 62729047 on Build GRCh38 Gain UBXN1 C11orf98 LRRN4CL INTS5 GANAB ROM1 UQCC3 EEF1G SNORA57 B3GAT3 GNG3 HNRNPUL2 LBHD1 TUT1 HNRNPUL2-BSCL2 EML3 METTL12 TTC9C MIR6747 BSCL2 MTA2

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