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 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
BSCL2 | NM_001122955.3 | 1 | 455 | NP_001116427.1 |
NR_037948.1 | 2 | 545 | ||
NR_037949.1 | 2 | 545 | ||
AF052149.1 | 1 | 95 | ||
AK223606.1 | 1 | 146 | BAD97326.1 | |
AK315423.1 | 2 | 462 | ||
BC093048.1 | AAH93048.1 | |||
BG699373.1 | 1 | 465 | ||
BP370169.1 | 2 | 544 | ||
DB178846.1 | 1 | 476 |
Entrez Gene ID: | 2785 |
Gene Name: | G protein subunit gamma 3 |
Gene Aliases: |
- |
Location: |
Chr.11:62707255-62709206 on Build GRCh38 |
Assay Gene Location: | Overlaps - Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
GNG3 | XM_006718500.2 | XP_006718563.1 |
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 Exon 14 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
HNRNPUL2-BSCL2 | NR_037946.1 | 14 | 2463 | |
AK122942.1 | 14 | 2463 | ||
CN346952.1 | 2 | 167 |
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv348 | Chr.11:62706978 - 62752240 on Build GRCh38 | Deletion | HNRNPUL2 BSCL2 GNG3 HNRNPUL2-BSCL2 TTC9C ZBTB3 |
nsv555174 | Chr.11:62566624 - 62729047 on Build GRCh38 | Gain | UQCC3 SNORA57 HNRNPUL2 MIR6747 INTS5 BSCL2 GANAB UBXN1 GNG3 TTC9C MTA2 B3GAT3 C11orf98 ROM1 METTL12 LRRN4CL LBHD1 EML3 TUT1 HNRNPUL2-BSCL2 EEF1G |
Set Membership: |
Intragenic Exonic Non-exonic DGV Variation |