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