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See other TSC2 CNV Assays ›
Gene Symbol
TSC2
Assay Reference Genome
Location

Chr.16:2058425 on build GRCh38
Cytoband
16p13.3
Assay ID Hs03933373_cn
Size
Availability Made To Order
Catalog # 4400291
Price
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Assay Details

Target Gene Details

Entrez Gene ID:

 7249

Gene Name:

 tuberous sclerosis 2

Gene Aliases:

 LAM, PPP1R160, TSC4

Location:

 Chr.16:2047804-2088720 on Build GRCh38

Assay Gene Location:

 Within Intron 10
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
TSC2 NM_000548.4 NP_000539.2
NM_001077183.2 NP_001070651.1
NM_001114382.2 NP_001107854.1
NM_001318827.1 NP_001305756.1
NM_001318829.1 NP_001305758.1
NM_001318831.1 NP_001305760.1
NM_001318832.1 NP_001305761.1
XM_005255529.4 XP_005255586.2
XM_005255531.4 XP_005255588.2
XM_011522636.2 XP_011520938.1
XM_011522637.2 XP_011520939.1
XM_011522638.2 XP_011520940.2
XM_011522639.2 XP_011520941.1
XM_011522640.2 XP_011520942.1
XM_017023615.1 XP_016879104.1
XM_017023616.1 XP_016879105.1
XM_017023617.1 XP_016879106.1
XM_017023618.1 XP_016879107.1
AB210000.1
AK295672.1
AK295728.1
AK299343.1
BC150300.1
BX647816.1 CAI46010.1
KJ534954.1
KJ534955.1
KJ534956.1
KJ534957.1
KJ534958.1
KJ534982.1
KJ534983.1
KJ534984.1
KJ534985.1
KJ535011.1
KJ535022.1
KJ535038.1
KJ535039.1
KJ535051.1
KJ535091.1
KJ535094.1
X75621.1 CAA53287.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
esv2422427 Chr.16:10001 - 2723164 on Build GRCh38 Duplication FAM234A WFIKKN1 MIR940 ERVK13-1 GNG13 ZNF598 MIR6767 RNPS1 MIR3178 PKD1 CAPN15 NME4 MIR3176 CLCN7 CRAMP1 LINC00254 TPSG1 CASKIN1 E4F1 ATP6V0C HBZ HBM PGP MIR6511B1 ABCA3 JMJD8 NTHL1 LOC105371047 MIR4717 RHBDL1 C16orf59 CCDC78 MIR3177 METTL26 LOC729652 CCDC154 RHBDF1 EME2 HS3ST6 SNRNP25 LMF1-AS1 SYNGR3 CACNA1H NPW FAHD1 PDPK1 PRSS27 MAPK8IP3 HBA2 NARFL TPSB2 MIR6768 LOC652276 MLST8 PDIA2 LINC00235 LUC7L UBE2I MIR5587 PIGQ AMDHD2 SNHG19 MRPL28 SPSB3 LOC101929280 SSTR5 NPRL3 LOC105371038 MPG POLR3K LOC107984876 CCNF RPUSD1 WDR90 LOC105371184 GNPTG LOC107987233 MIR3180-5 MCRIP2 SNORA10 NTN3 C1QTNF8 IFT140 NHLRC4 TMEM8A HN1L FLJ42627 LOC100287175 SNORA78 LOC106660606 UNKL TMEM204 MIR4516 TBL3 PRR25 RAB40C SLC9A3R2 LOC105371049 DECR2 METRN MIR662 NOXO1 SSTR5-AS1 ABCA17P DDX11L10 GFER MIR6859-4 MSLN TPSD1 RAB11FIP3 SNORD60 LOC105371045 SNORA64 FAM173A BRICD5 MIR3677 DNASE1L2 RPL3L HAGHL RNF151 ARHGDIG HBA1 HBQ1 MSRB1 TELO2 MIR1225 LOC105371046 NUBP2 HAGH NDUFB10 TPSAB1 RGS11 CHTF18 RHOT2 FBXL16 MRPS34 TSC2 KCTD5 CEMP1 C16orf91 RPL23AP5 LOC100134368 NME3 SOX8 PRSS29P MEIOB BAIAP3 AXIN1 PRR35 WDR24 TSR3 LMF1 TRAF7 TBC1D24 PTX4 ECI1 IGFALS RAB26 SNHG9 RPS2 STUB1 WASIR2
nsv523037 Chr.16:1971892 - 2083900 on Build GRCh38 Loss GFER SLC9A3R2 TSC2 NTHL1 ZNF598 SYNGR3 NPW TBL3 NOXO1
nsv952901 Chr.16:1888800 - 2135899 on Build GRCh38 Deletion MIR6511B1 SLC9A3R2 LOC105371049 TSC2 SNORA64 NTHL1 ZNF598 RPL3L HS3ST6 RNF151 SYNGR3 NPW PKD1 MSRB1 NOXO1 SNORA78 MIR1225 GFER NDUFB10 SNHG9 MIR4516 RPS2 TBL3 SNORA10
nsv1160329 Chr.16:1961727 - 2128574 on Build GRCh38 Deletion MIR6511B1 SLC9A3R2 LOC105371049 TSC2 SNORA64 NTHL1 ZNF598 RNF151 SYNGR3 NPW PKD1 NOXO1 SNORA78 MIR1225 GFER NDUFB10 SNHG9 RPS2 TBL3 SNORA10
nsv571190 Chr.16:2055054 - 2200730 on Build GRCh38 Loss MIR6511B1 LOC105371049 TSC2 TRAF7 SNHG19 RAB26 MIR3180-5 MIR4516 CASKIN1 PKD1 SNORD60 MIR1225

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