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 | 5382 | NP_000359.1 |
NM_001162426.1 | 23 | 5379 | NP_001155898.1 | |
NM_001162427.1 | 22 | 5229 | NP_001155899.1 | |
XM_005272211.1 | 23 | 5427 | XP_005272268.1 | |
XM_006717271.1 | 23 | 5362 | XP_006717334.1 | |
XM_011518979.2 | 23 | 5376 | XP_011517281.1 | |
XM_017015096.1 | 24 | 5841 | XP_016870585.1 | |
XM_017015097.1 | 24 | 5812 | XP_016870586.1 | |
XM_017015098.1 | 23 | 5424 | XP_016870587.1 | |
XM_017015099.1 | 22 | 5520 | XP_016870588.1 | |
XM_017015100.1 | 22 | 5491 | XP_016870589.1 | |
XM_017015101.1 | 22 | 5518 | XP_016870590.1 | |
AF013168.1 | 23 | 5369 | AAC51674.1 | |
D87683.1 | 10 | 3753 | 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 SPACA9 GFI1B AK8 TSC1 |
esv2739138 | Chr.9:132727483 - 135521553 on Build GRCh38 | Deletion | LOC101928525 COL5A1 COL5A1-AS1 CELP DBH-AS1 MIR3689A SNORD36A ABO C9orf116 SARDH LINC00094 SURF4 MIR3689D2 RPL7A SNORD141A SURF2 LOC401557 REXO4 FCN2 RNU6ATAC LCN1 OBP2B LOC100996574 OLFM1 LOC101928193 GTF3C5 DBH PPP1R26 STKLD1 MIR6877 MIR3689D1 C9orf62 WDR5 FCN1 TMEM8C MED22 MIR3689C MIR3689E SLC2A6 BRD3 RALGDS ADAMTS13 MIR4669 LOC105376306 MIR3689B MRPS2 CEL PPP1R26-AS1 SPACA9 GFI1B SURF6 AK8 TSC1 ADAMTSL2 SNORD36C VAV2 SNORD24 SURF1 GBGT1 CACFD1 FAM163B MIR548AW MIR3689F SNORD36B RXRA LOC101448202 LOC100130548 |
esv3621927 | Chr.9:132885654 - 132894812 on Build GRCh38 | Gain | SPACA9 TSC1 |
Set Membership: |
Intragenic Exonic DGV Variation |