Product Details

Assay Reference Genome
Location

Chr.9:132892631 on build GRCh38
Cytoband
9q34.13
Species
Homo sapiens
Variation Type
Copy Number

Additional Information

Target Gene Details

Entrez Gene ID
7248
Gene Symbol
TSC1
Gene Name
tuberous sclerosis 1
Gene Aliases
LAM, TSC
Location
Chr.9:132891348-132945269 on build GRCh38
Assay Gene Location
Within Exon 25
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
TSC1 NM_000368.4 23 7333 NP_000359.1
NM_001162426.1 23 7330 NP_001155898.1
NM_001162427.1 22 7180 NP_001155899.1
XM_005272211.1 23 7378 XP_005272268.1
XM_006717271.1 23 7313 XP_006717334.1
XM_011518979.2 23 7327 XP_011517281.1
XM_017015096.1 24 7792 XP_016870585.1
XM_017015097.1 24 7763 XP_016870586.1
XM_017015098.1 23 7375 XP_016870587.1
XM_017015099.1 22 7471 XP_016870588.1
XM_017015100.1 22 7442 XP_016870589.1
XM_017015101.1 22 7469 XP_016870590.1
AF013168.1 23 7320 AAC51674.1
D87683.1 10 5704 BAA13436.1

Target Copy Number Variation Details

DGV Version
Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv831743 Chr9:132820292 - 132982548 on Build GRCh38 Loss TSC1 MIR548AW AK8 SPACA9 GFI1B
esv2739138 Chr9:132727483 - 135521553 on Build GRCh38 Deletion SNORD141A MIR548AW C9orf116 MIR3689E FAM163B ADAMTS13 SURF2 SURF1 RPL7A AK8 SLC2A6 VAV2 MIR3689C LOC401557 LOC101928525 SPACA9 FCN2 SURF4 ABO RALGDS MRPS2 LINC00094 TSC1 C9orf62 MIR3689F CEL RXRA LOC101928193 MIR3689D2 OLFM1 MED22 COL5A1 LOC101448202 MIR6877 MIR3689A MIR4669 LOC100130548 SNORD24 SURF6 LCN1 SARDH LOC100996574 MIR3689B GFI1B MIR3689D1 STKLD1 REXO4 LOC105376306 SNORD36C PPP1R26-AS1 DBH-AS1 SNORD36B PPP1R26 SNORD36A RNU6ATAC COL5A1-AS1 OBP2B BRD3 ADAMTSL2 FCN1 WDR5 GBGT1 CACFD1 DBH CELP GTF3C5 TMEM8C
esv3621927 Chr9:132885654 - 132894812 on Build GRCh38 Gain TSC1 SPACA9

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