Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Entrez Gene ID: | 7248 |
Gene Name: | tuberous sclerosis 1 |
Gene Aliases: |
LAM, TSC |
Location: |
Chr.9:132891348-132945269 on Build GRCh38 |
Assay Gene Location: | Within Exon 25 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
TSC1 | NM_000368.4 | 23 | 6511 | NP_000359.1 |
NM_001162426.1 | 23 | 6508 | NP_001155898.1 | |
NM_001162427.1 | 22 | 6358 | NP_001155899.1 | |
XM_005272211.1 | 23 | 6556 | XP_005272268.1 | |
XM_006717271.1 | 23 | 6491 | XP_006717334.1 | |
XM_011518979.2 | 23 | 6505 | XP_011517281.1 | |
XM_017015096.1 | 24 | 6970 | XP_016870585.1 | |
XM_017015097.1 | 24 | 6941 | XP_016870586.1 | |
XM_017015098.1 | 23 | 6553 | XP_016870587.1 | |
XM_017015099.1 | 22 | 6649 | XP_016870588.1 | |
XM_017015100.1 | 22 | 6620 | XP_016870589.1 | |
XM_017015101.1 | 22 | 6647 | XP_016870590.1 | |
AF013168.1 | 23 | 6498 | AAC51674.1 | |
D87683.1 | 10 | 4882 | BAA13436.1 |
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv831743 | Chr.9:132820292 - 132982548 on Build GRCh38 | Loss | MIR548AW TSC1 GFI1B AK8 SPACA9 |
esv2739138 | Chr.9:132727483 - 135521553 on Build GRCh38 | Deletion | REXO4 C9orf116 WDR5 MIR3689B MIR3689F LOC100130548 SNORD36C COL5A1-AS1 VAV2 LOC100996574 MIR3689D1 AK8 MIR4669 OBP2B MIR548AW FCN1 SARDH RXRA SNORD141A TMEM8C SNORD24 BRD3 LOC105376306 CEL MIR3689D2 LOC101928525 CELP MIR3689E ADAMTSL2 MIR3689A SPACA9 FAM163B PPP1R26-AS1 SLC2A6 FCN2 SNORD36B SURF6 DBH LCN1 ABO SURF2 C9orf62 OLFM1 ADAMTS13 TSC1 DBH-AS1 COL5A1 GBGT1 LINC00094 RALGDS GTF3C5 CACFD1 MIR3689C PPP1R26 RPL7A STKLD1 GFI1B RNU6ATAC LOC401557 MRPS2 MIR6877 MED22 LOC101448202 LOC101928193 SURF1 SNORD36A SURF4 |
esv3621927 | Chr.9:132885654 - 132894812 on Build GRCh38 | Gain | TSC1 SPACA9 |
Set Membership: |
Intragenic Exonic DGV Variation |