Product Details

Assay Reference Genome
Location

Chr.9:132896541 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 3423 NP_000359.1
NM_001162426.1 23 3420 NP_001155898.1
NM_001162427.1 22 3270 NP_001155899.1
XM_005272211.1 23 3468 XP_005272268.1
XM_006717271.1 23 3403 XP_006717334.1
XM_011518979.2 23 3417 XP_011517281.1
XM_017015096.1 24 3882 XP_016870585.1
XM_017015097.1 24 3853 XP_016870586.1
XM_017015098.1 23 3465 XP_016870587.1
XM_017015099.1 22 3561 XP_016870588.1
XM_017015100.1 22 3532 XP_016870589.1
XM_017015101.1 22 3559 XP_016870590.1
AF013168.1 23 3410 AAC51674.1
AK299654.1 9 1045
AK303030.1 22 3253
D87683.1 10 1794 BAA13436.1
KJ534953.1 21 3189

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 AK8 GFI1B MIR548AW SPACA9 TSC1
esv2739138 Chr9:132727483 - 135521553 on Build GRCh38 Deletion SURF6 CEL COL5A1 AK8 SNORD141A ABO LCN1 MIR3689B MIR548AW RNU6ATAC MIR3689D2 MIR3689C ADAMTS13 MIR3689F C9orf62 SNORD24 LOC101928525 COL5A1-AS1 LOC101928193 STKLD1 RPL7A LOC100996574 MIR6877 DBH-AS1 FAM163B LINC00094 VAV2 LOC401557 TMEM8C CACFD1 WDR5 OBP2B FCN1 BRD3 MED22 C9orf116 SNORD36A SLC2A6 SURF2 SURF1 LOC100130548 LOC105376306 TSC1 RXRA ADAMTSL2 RALGDS MIR3689A MIR3689D1 SPACA9 FCN2 CELP LOC101448202 MIR4669 MRPS2 SNORD36B GFI1B REXO4 OLFM1 PPP1R26-AS1 PPP1R26 GTF3C5 SNORD36C MIR3689E DBH GBGT1 SARDH SURF4

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