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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 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
BSCL2 | NR_037948.1 | |||
NR_037949.1 | ||||
AK315423.1 | ||||
BP370169.1 |
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 Intron 3 - Exon 4 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
GNG3 | NM_012202.4 | NP_036334.1 | ||
XM_006718500.2 | XP_006718563.1 | |||
AF075042.1 | ||||
AF087900.1 | AAP97199.1 | |||
AF092129.1 | AAD40371.1 | |||
AF493871.1 | AAM12585.1 | |||
AK311933.1 | ||||
BC015563.2 | AAH15563.1 | |||
CK004020.1 | ||||
DA123305.1 |
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 13 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
HNRNPUL2-BSCL2 | NR_037946.1 | |||
AK122942.1 | ||||
CN346952.1 |
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv348 | Chr.11:62706978 - 62752240 on Build GRCh38 | Deletion | TTC9C BSCL2 GNG3 HNRNPUL2 HNRNPUL2-BSCL2 ZBTB3 |
nsv555174 | Chr.11:62566624 - 62729047 on Build GRCh38 | Gain | BSCL2 GANAB SNORA57 INTS5 B3GAT3 GNG3 MTA2 MIR6747 EML3 LRRN4CL TUT1 TTC9C UBXN1 EEF1G UQCC3 HNRNPUL2 LBHD1 HNRNPUL2-BSCL2 METTL12 C11orf98 ROM1 |
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |