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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 2 |
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 | ||||
BI463204.1 | ||||
DA726552.1 |
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 SPACA9 AK8 TSC1 MIR548AW |
esv2739138 | Chr.9:132727483 - 135521553 on Build GRCh38 | Deletion | LOC401557 WDR5 FCN1 RALGDS SPACA9 SURF1 STKLD1 MIR3689C GBGT1 MIR6877 FAM163B ABO MIR3689E CELP C9orf116 SARDH LOC101928525 MIR3689D2 LINC00094 LOC105376306 RPL7A BRD3 REXO4 LOC101448202 DBH FCN2 COL5A1 MIR3689F COL5A1-AS1 LOC100130548 SNORD36B SURF6 SURF2 RNU6ATAC SURF4 SNORD141A DBH-AS1 TSC1 SNORD24 PPP1R26-AS1 AK8 MED22 SLC2A6 MIR4669 MIR3689B OLFM1 SNORD36A OBP2B CACFD1 ADAMTSL2 MRPS2 RXRA PPP1R26 MIR3689D1 LCN1 LOC100996574 CEL VAV2 TMEM8C MIR3689A GTF3C5 GFI1B C9orf62 LOC101928193 ADAMTS13 MIR548AW SNORD36C |
nsv6745 | Chr.9:132929207 - 132958453 on Build GRCh38 | Insertion | GFI1B TSC1 MIR548AW |
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |