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: | Overlaps Intron 15 - Exon 15 |
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 | |||
AF013168.1 | AAC51674.1 | |||
AK297326.1 | ||||
AK299654.1 | ||||
AK303030.1 | ||||
AK308412.1 | ||||
BC108668.1 | AAI08669.1 | |||
KJ534953.1 |
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 TSC1 GFI1B |
esv2739138 | Chr.9:132727483 - 135521553 on Build GRCh38 | Deletion | COL5A1-AS1 CACFD1 RALGDS BRD3 LOC105376306 SNORD24 COL5A1 LOC100996574 SLC2A6 SURF4 MIR6877 RPL7A FCN2 SPACA9 MIR4669 SARDH FAM163B WDR5 MIR3689A MIR3689D2 FCN1 CEL MIR3689C MIR3689F LOC401557 TMEM8C RXRA MIR3689B ABO ADAMTSL2 GTF3C5 GBGT1 SNORD141A ADAMTS13 DBH PPP1R26 DBH-AS1 SNORD36A MIR3689E SURF6 MIR3689D1 LOC101928193 OLFM1 STKLD1 C9orf116 SNORD36B GFI1B MIR548AW AK8 C9orf62 CELP MRPS2 LOC101928525 LINC00094 RNU6ATAC SURF1 TSC1 LCN1 SURF2 OBP2B LOC101448202 PPP1R26-AS1 MED22 LOC100130548 VAV2 REXO4 SNORD36C |
Set Membership: |
Intragenic Non-exonic DGV Variation |