Product Details

Assay Reference Genome
Location

Chr.11:62690941 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 Intron 10
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
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
Within Intron 21
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 EML3 MTA2 C11orf98 UQCC3 METTL12 UBXN1 HNRNPUL2-BSCL2 EEF1G INTS5 ROM1 SNORA57 MIR6747 TUT1 LRRN4CL GANAB LBHD1 BSCL2 AHNAK B3GAT3
nsv555174 Chr11:62566624 - 62729047 on Build GRCh38 Gain EML3 HNRNPUL2 MTA2 C11orf98 UQCC3 METTL12 UBXN1 HNRNPUL2-BSCL2 EEF1G INTS5 ROM1 SNORA57 MIR6747 TUT1 LRRN4CL GANAB LBHD1 BSCL2 B3GAT3 TTC9C GNG3

View Full Product Details