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 16 - Exon 16 |
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 | |||
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 | MIR548AW AK8 SPACA9 TSC1 GFI1B |
esv2739138 | Chr.9:132727483 - 135521553 on Build GRCh38 | Deletion | MIR3689D2 DBH-AS1 MIR3689A CACFD1 GBGT1 FCN1 COL5A1-AS1 COL5A1 SNORD36A RALGDS LOC100996574 TSC1 SURF2 FCN2 MIR6877 GTF3C5 LOC101448202 SNORD36C CELP GFI1B C9orf62 BRD3 FAM163B LOC101928193 PPP1R26-AS1 SNORD36B SNORD141A MIR548AW ADAMTS13 SNORD24 DBH MIR3689C OBP2B SURF6 LOC100130548 SURF1 OLFM1 MIR3689B C9orf116 RNU6ATAC LCN1 MED22 MIR3689E MIR4669 WDR5 MIR3689D1 VAV2 SURF4 MRPS2 LOC101928525 STKLD1 SPACA9 REXO4 SARDH PPP1R26 ABO TMEM8C MIR3689F LINC00094 RPL7A RXRA LOC105376306 LOC401557 ADAMTSL2 CEL AK8 SLC2A6 |
Set Membership: |
Intragenic Non-exonic DGV Variation |