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

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