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 22 - Exon 22 |
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 TSC1 SPACA9 AK8 MIR548AW |
esv2739138 | Chr.9:132727483 - 135521553 on Build GRCh38 | Deletion | C9orf116 SPACA9 COL5A1-AS1 LOC105376306 RNU6ATAC SNORD24 SNORD36A SARDH FCN2 PPP1R26-AS1 MIR3689B CELP MRPS2 STKLD1 MIR3689E OBP2B GFI1B RPL7A LOC101928193 SURF4 FAM163B LOC401557 MIR6877 MED22 OLFM1 CEL MIR3689D2 PPP1R26 ADAMTSL2 VAV2 FCN1 SURF1 DBH DBH-AS1 WDR5 LCN1 MIR3689F SURF6 ABO MIR3689A CACFD1 BRD3 MIR4669 REXO4 MIR3689C LOC100130548 AK8 LOC101928525 SNORD141A C9orf62 LINC00094 ADAMTS13 MIR3689D1 RXRA TMEM8C SLC2A6 GTF3C5 SURF2 RALGDS COL5A1 SNORD36B TSC1 GBGT1 LOC100996574 SNORD36C MIR548AW LOC101448202 |
Set Membership: |
Intragenic Non-exonic DGV Variation |