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Entrez Gene ID: | 26580 |
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 Transcript 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 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 Transcript Location | Protein ID |
---|---|---|---|---|
HNRNPUL2-BSCL2 | NR_037946.1 | |||
AK122942.1 |
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv832182 | Chr.11:62528103 - 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 | Chr.11:62566624 - 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 |
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |