Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
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 Exon 7 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
BSCL2 | NM_001122955.3 | 5 | 1192 | NP_001116427.1 |
NM_001130702.2 | 5 | 706 | NP_001124174.2 | |
NM_032667.6 | 5 | 706 | NP_116056.3 | |
NR_037948.1 | 6 | 1282 | ||
NR_037949.1 | 6 | 1282 | ||
AF052149.1 | 5 | 832 | ||
AK027524.1 | 5 | 706 | BAB55175.1 | |
AK075317.1 | 5 | 689 | BAC11543.1 | |
AK223606.1 | 5 | 883 | BAD97326.1 | |
AK225029.1 | 5 | 687 | ||
AK315423.1 | 6 | 1199 | ||
BC004911.2 | 5 | 685 | AAH04911.1 | |
BC012140.1 | 5 | 676 | AAH12140.1 | |
BC041640.1 | 5 | 658 | AAH41640.1 | |
BC093048.1 | 5 | 741 | AAH93048.1 | |
KU178595.1 | 4 | 488 | ||
KU178596.1 | 3 | 406 |
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 Exon 18 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
HNRNPUL2-BSCL2 | NR_037946.1 | 18 | 3200 | |
AK122942.1 | 18 | 3200 |
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 | LRRN4CL GANAB INTS5 EML3 B3GAT3 LBHD1 MIR6747 SNORA57 AHNAK EEF1G ROM1 UQCC3 TUT1 BSCL2 METTL12 MTA2 HNRNPUL2-BSCL2 C11orf98 UBXN1 |
nsv555174 | Chr.11:62566624 - 62729047 on Build GRCh38 | Gain | LRRN4CL GNG3 GANAB INTS5 TTC9C EML3 B3GAT3 LBHD1 MIR6747 SNORA57 HNRNPUL2 EEF1G ROM1 UQCC3 TUT1 BSCL2 METTL12 MTA2 HNRNPUL2-BSCL2 C11orf98 UBXN1 |
Set Membership: |
Intragenic Exonic DGV Variation |