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 | 5601 | NP_000359.1 |
NM_001162426.1 | 23 | 5598 | NP_001155898.1 | |
NM_001162427.1 | 22 | 5448 | NP_001155899.1 | |
XM_005272211.1 | 23 | 5646 | XP_005272268.1 | |
XM_006717271.1 | 23 | 5581 | XP_006717334.1 | |
XM_011518979.2 | 23 | 5595 | XP_011517281.1 | |
XM_017015096.1 | 24 | 6060 | XP_016870585.1 | |
XM_017015097.1 | 24 | 6031 | XP_016870586.1 | |
XM_017015098.1 | 23 | 5643 | XP_016870587.1 | |
XM_017015099.1 | 22 | 5739 | XP_016870588.1 | |
XM_017015100.1 | 22 | 5710 | XP_016870589.1 | |
XM_017015101.1 | 22 | 5737 | XP_016870590.1 | |
AF013168.1 | 23 | 5588 | AAC51674.1 | |
D87683.1 | 10 | 3972 | 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 AK8 SPACA9 GFI1B TSC1 |
esv2739138 | Chr.9:132727483 - 135521553 on Build GRCh38 | Deletion | LOC101448202 SURF6 LOC101928193 DBH-AS1 PPP1R26 GFI1B MIR3689D1 BRD3 RNU6ATAC LOC105376306 LOC401557 COL5A1-AS1 LOC101928525 MRPS2 RPL7A REXO4 MIR548AW MIR3689B TMEM8C ADAMTSL2 CEL LINC00094 CACFD1 WDR5 MED22 SARDH MIR3689D2 SNORD36A SLC2A6 CELP SURF1 C9orf116 SNORD141A OBP2B SNORD24 MIR6877 SNORD36C SURF2 MIR3689A SURF4 STKLD1 SNORD36B SPACA9 FAM163B GBGT1 LOC100996574 DBH GTF3C5 RXRA C9orf62 FCN1 VAV2 COL5A1 MIR3689F AK8 MIR4669 TSC1 MIR3689C RALGDS LCN1 OLFM1 FCN2 MIR3689E PPP1R26-AS1 ABO LOC100130548 ADAMTS13 |
esv3621927 | Chr.9:132885654 - 132894812 on Build GRCh38 | Gain | SPACA9 TSC1 |
Set Membership: |
Intragenic Exonic DGV Variation |