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 17 - Exon 18 |
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 | |||
AK299654.1 | ||||
AK303030.1 | ||||
AK308412.1 | ||||
D87683.1 | BAA13436.1 | |||
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 | GFI1B MIR548AW AK8 SPACA9 TSC1 |
esv2739138 | Chr.9:132727483 - 135521553 on Build GRCh38 | Deletion | LOC401557 STKLD1 LCN1 LOC101928525 MIR3689F SURF2 SARDH MED22 CACFD1 BRD3 MIR548AW AK8 PPP1R26 FCN1 ADAMTS13 MIR4669 OBP2B TMEM8C SNORD141A C9orf62 MIR3689C MIR3689B LOC100130548 MRPS2 TSC1 LOC101448202 ABO RNU6ATAC LOC101928193 OLFM1 SURF6 GBGT1 DBH LOC105376306 LOC100996574 SNORD36C VAV2 SNORD24 REXO4 MIR3689A MIR6877 RXRA PPP1R26-AS1 SNORD36A SLC2A6 LINC00094 ADAMTSL2 GTF3C5 RPL7A SPACA9 SURF1 MIR3689D1 COL5A1 MIR3689E FCN2 C9orf116 CEL COL5A1-AS1 SURF4 SNORD36B MIR3689D2 RALGDS WDR5 GFI1B FAM163B DBH-AS1 CELP |
Set Membership: |
Intragenic Non-exonic DGV Variation |