Product Details

Assay Reference Genome
Location

Chr.9:132893182 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 6782 NP_000359.1
NM_001162426.1 23 6779 NP_001155898.1
NM_001162427.1 22 6629 NP_001155899.1
XM_005272211.1 23 6827 XP_005272268.1
XM_006717271.1 23 6762 XP_006717334.1
XM_011518979.2 23 6776 XP_011517281.1
XM_017015096.1 24 7241 XP_016870585.1
XM_017015097.1 24 7212 XP_016870586.1
XM_017015098.1 23 6824 XP_016870587.1
XM_017015099.1 22 6920 XP_016870588.1
XM_017015100.1 22 6891 XP_016870589.1
XM_017015101.1 22 6918 XP_016870590.1
AF013168.1 23 6769 AAC51674.1
D87683.1 10 5153 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 AK8 MIR548AW SPACA9 GFI1B
esv2739138 Chr9:132727483 - 135521553 on Build GRCh38 Deletion MIR4669 LOC101928193 SNORD36A GBGT1 MIR3689D2 SNORD36B C9orf116 FCN1 MIR3689B LCN1 LOC100130548 GFI1B SNORD141A VAV2 WDR5 RPL7A RNU6ATAC BRD3 SPACA9 LOC101928525 LINC00094 AK8 C9orf62 SARDH SLC2A6 PPP1R26 DBH-AS1 MIR3689D1 COL5A1 STKLD1 GTF3C5 LOC101448202 CACFD1 OLFM1 TSC1 FCN2 TMEM8C DBH ADAMTSL2 SURF2 ADAMTS13 SNORD36C MIR3689E MIR3689A ABO LOC105376306 PPP1R26-AS1 SURF1 CEL MIR6877 COL5A1-AS1 SNORD24 MED22 MRPS2 MIR3689C SURF4 FAM163B MIR3689F OBP2B CELP MIR548AW LOC401557 RXRA SURF6 RALGDS REXO4 LOC100996574
esv3621927 Chr9:132885654 - 132894812 on Build GRCh38 Gain TSC1 SPACA9

View Full Product Details