Product Details

Assay Reference Genome
Location

Chr.11:62690635 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 12
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 23
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 METTL12 LBHD1 MTA2 LRRN4CL B3GAT3 HNRNPUL2-BSCL2 MIR6747 SNORA57 C11orf98 AHNAK EEF1G GANAB TUT1 EML3 ROM1 INTS5 UBXN1 UQCC3 BSCL2
nsv555174 Chr11:62566624 - 62729047 on Build GRCh38 Gain METTL12 LBHD1 MTA2 LRRN4CL GNG3 B3GAT3 HNRNPUL2-BSCL2 MIR6747 SNORA57 C11orf98 TTC9C EEF1G GANAB TUT1 EML3 ROM1 INTS5 UBXN1 UQCC3 HNRNPUL2 BSCL2

View Full Product Details