Product Details

Assay Reference Genome
Location

Chr.11:62692748 on build GRCh38
Cytoband
11q12.3
Species
Homo sapiens
Variation Type
Copy Number

Additional Information

Target Gene Details

Entrez Gene ID
26580
Gene Symbol
BSCL2
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 7
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
BSCL2 NM_001122955.3 5 1192 NP_001116427.1
NM_001130702.2 5 706 NP_001124174.2
NM_032667.6 5 706 NP_116056.3
NR_037948.1 6 1282
NR_037949.1 6 1282
AF052149.1 5 832
AK027524.1 5 706 BAB55175.1
AK075317.1 5 689 BAC11543.1
AK223606.1 5 883 BAD97326.1
AK225029.1 5 687
AK315423.1 6 1199
BC004911.2 5 685 AAH04911.1
BC012140.1 5 676 AAH12140.1
BC041640.1 5 658 AAH41640.1
BC093048.1 5 741 AAH93048.1
KU178595.1 4 488
KU178596.1 3 406
Entrez Gene ID
100534595
Gene Symbol
HNRNPUL2-BSCL2
Gene Name
HNRNPUL2-BSCL2 readthrough (NMD candidate)
Gene Aliases
Location
Chr.11:62690262-62727384 on build GRCh38
Assay Gene Location
Within Exon 18
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
HNRNPUL2-BSCL2 NR_037946.1 18 3200
AK122942.1 18 3200

Target Copy Number Variation Details

DGV Version
Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv832182 Chr11:62528103 - 62695376 on Build GRCh38 Gain+Loss LRRN4CL GANAB INTS5 EML3 B3GAT3 LBHD1 MIR6747 SNORA57 AHNAK EEF1G ROM1 UQCC3 TUT1 BSCL2 METTL12 MTA2 HNRNPUL2-BSCL2 C11orf98 UBXN1
nsv555174 Chr11:62566624 - 62729047 on Build GRCh38 Gain LRRN4CL GNG3 GANAB INTS5 TTC9C EML3 B3GAT3 LBHD1 MIR6747 SNORA57 HNRNPUL2 EEF1G ROM1 UQCC3 TUT1 BSCL2 METTL12 MTA2 HNRNPUL2-BSCL2 C11orf98 UBXN1

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