Product Details

Assay Reference Genome
Location

Chr.11:62690511 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
Overlaps Intron 12 - Exon 13
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
BSCL2 NM_001122955.3 NP_001116427.1
NM_001130702.2 NP_001124174.2
NM_032667.6 NP_116056.3
NR_037948.1
NR_037949.1
AF052149.1
AK027524.1 BAB55175.1
AK075317.1 BAC11543.1
AK223606.1 BAD97326.1
AK225029.1
AK315423.1
BC004911.2 AAH04911.1
BC012140.1 AAH12140.1
BC041640.1 AAH41640.1
BC093048.1 AAH93048.1
CD107822.1
DB296305.1
KU178595.1
KU178596.1
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
Overlaps Intron 23 - Exon 24
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
HNRNPUL2-BSCL2 NR_037946.1
AK122942.1

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 C11orf98 MIR6747 BSCL2 GANAB LBHD1 AHNAK UBXN1 METTL12 INTS5 SNORA57 EEF1G B3GAT3 LRRN4CL TUT1 MTA2 HNRNPUL2-BSCL2 EML3 UQCC3 ROM1
nsv555174 Chr11:62566624 - 62729047 on Build GRCh38 Gain C11orf98 MIR6747 BSCL2 GANAB HNRNPUL2 LBHD1 GNG3 UBXN1 METTL12 INTS5 SNORA57 EEF1G B3GAT3 LRRN4CL TUT1 MTA2 HNRNPUL2-BSCL2 EML3 TTC9C UQCC3 ROM1

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