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 Intron 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
TSC1 | NM_000368.4 | NP_000359.1 | ||
NM_001162426.1 | NP_001155898.1 | |||
NM_001162427.1 | NP_001155899.1 | |||
XM_005272211.1 | XP_005272268.1 | |||
XM_006717271.1 | XP_006717334.1 | |||
XM_011518979.2 | XP_011517281.1 | |||
XM_017015096.1 | XP_016870585.1 | |||
XM_017015097.1 | XP_016870586.1 | |||
XM_017015098.1 | XP_016870587.1 | |||
XM_017015099.1 | XP_016870588.1 | |||
XM_017015100.1 | XP_016870589.1 | |||
XM_017015101.1 | XP_016870590.1 | |||
AB190910.1 | BAD91314.1 | |||
AF013168.1 | AAC51674.1 | |||
AK297326.1 | ||||
AK299654.1 | ||||
AK303030.1 | ||||
AK308412.1 | ||||
BC047772.2 | AAH47772.1 | |||
BC070032.1 | AAH70032.1 | |||
BC108668.1 | AAI08669.1 | |||
BC121000.2 | ||||
BI463204.1 | ||||
DA726552.1 |
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1038328 | Chr.9:132923184 - 132937614 on Build GRCh38 | Loss | TSC1 |
nsv831743 | Chr.9:132820292 - 132982548 on Build GRCh38 | Loss | SPACA9 AK8 GFI1B MIR548AW TSC1 |
esv2739138 | Chr.9:132727483 - 135521553 on Build GRCh38 | Deletion | C9orf116 SNORD36B LOC101448202 MIR548AW REXO4 SURF1 CEL MIR3689D2 MIR3689F COL5A1-AS1 LOC401557 DBH-AS1 VAV2 SURF4 WDR5 SPACA9 PPP1R26 LOC101928193 OLFM1 COL5A1 TSC1 RALGDS ADAMTSL2 LINC00094 SLC2A6 MRPS2 RNU6ATAC MIR3689A GTF3C5 ABO SNORD141A BRD3 LOC105376306 PPP1R26-AS1 SNORD36A SNORD24 SNORD36C MED22 FCN2 SURF2 SARDH STKLD1 FAM163B RXRA CELP MIR6877 MIR3689B MIR3689E LOC100130548 GFI1B MIR4669 RPL7A MIR3689D1 C9orf62 LCN1 LOC100996574 CACFD1 LOC101928525 AK8 MIR3689C GBGT1 SURF6 TMEM8C ADAMTS13 FCN1 OBP2B DBH |
nsv6745 | Chr.9:132929207 - 132958453 on Build GRCh38 | Insertion | GFI1B MIR548AW TSC1 |
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |