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 10 |
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 | ||||
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 AK8 SPACA9 MIR548AW |
esv2739138 | Chr.9:132727483 - 135521553 on Build GRCh38 | Deletion | SURF1 SURF2 SNORD36A MIR3689E OLFM1 SNORD36B LCN1 SNORD24 MIR3689B MIR3689D1 SPACA9 FAM163B LOC100996574 LOC101928193 GBGT1 REXO4 LINC00094 MIR3689F COL5A1-AS1 OBP2B SLC2A6 LOC100130548 PPP1R26-AS1 VAV2 SNORD141A LOC401557 MIR3689D2 ABO BRD3 MIR3689A COL5A1 DBH-AS1 SARDH TMEM8C MIR548AW MIR3689C RXRA RALGDS CEL MRPS2 ADAMTSL2 FCN1 MIR4669 DBH GFI1B CELP ADAMTS13 LOC105376306 SURF6 TSC1 RNU6ATAC C9orf116 FCN2 PPP1R26 SURF4 C9orf62 WDR5 GTF3C5 AK8 SNORD36C CACFD1 MED22 RPL7A MIR6877 LOC101448202 STKLD1 LOC101928525 |
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |