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

Chr.16:2072613 on build GRCh38
Cytoband
16p13.3
Assay ID Hs03943957_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 22
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
DB288276.1
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 PKD1 SSTR5-AS1 LOC105371047 MIR3178 JMJD8 MIR4717 TSR3 SNORD60 NPW C16orf91 GNPTG HN1L ATP6V0C PRR35 PDPK1 WDR24 MIR3176 DNASE1L2 SPSB3 RHBDF1 ABCA3 FLJ42627 ECI1 NME3 NTN3 SSTR5 LOC652276 UBE2I NPRL3 PTX4 LOC100287175 HS3ST6 LOC105371046 TBC1D24 PRSS29P RHOT2 STUB1 TPSG1 MRPS34 RNF151 DECR2 MIR6767 PIGQ NTHL1 BRICD5 LOC101929280 MIR6859-4 ABCA17P RPL23AP5 DDX11L10 MPG CRAMP1 MIR662 MIR3180-5 LOC105371184 HBM C16orf59 MIR6768 POLR3K MCRIP2 METRN TMEM204 SNORA10 PRR25 PDIA2 SLC9A3R2 MIR940 IFT140 HAGH RPL3L NOXO1 NDUFB10 LOC100134368 PRSS27 MAPK8IP3 MRPL28 TSC2 CCNF PGP UNKL LOC729652 CACNA1H LUC7L SNRNP25 MIR4516 AMDHD2 MIR5587 LINC00235 CEMP1 GFER FAHD1 NME4 LOC106660606 SYNGR3 TRAF7 MIR3677 FBXL16 LINC00254 MIR3177 SNORA64 LOC107987233 TELO2 MEIOB HBA2 TBL3 SOX8 SNORA78 LMF1-AS1 METTL26 SNHG19 CCDC154 RAB40C LOC105371045 RPS2 FAM173A TMEM8A CHTF18 HBA1 NUBP2 ZNF598 NARFL FAM234A WASIR2 CASKIN1 RGS11 BAIAP3 LOC107984876 RAB11FIP3 HAGHL HBZ KCTD5 LMF1 AXIN1 WFIKKN1 IGFALS C1QTNF8 ERVK13-1 WDR90 TPSD1 ARHGDIG LOC105371038 CAPN15 NHLRC4 TPSAB1 MSLN E4F1 RAB26 LOC105371049 MIR6511B1 RPUSD1 CLCN7 RNPS1 SNHG9 CCDC78 EME2 HBQ1 MLST8 TPSB2 RHBDL1 MIR1225 MSRB1 GNG13
nsv523037 Chr.16:1971892 - 2083900 on Build GRCh38 Loss NOXO1 NPW SYNGR3 TBL3 ZNF598 SLC9A3R2 NTHL1 GFER TSC2
nsv952901 Chr.16:1888800 - 2135899 on Build GRCh38 Deletion PKD1 RPL3L NOXO1 RPS2 NDUFB10 SYNGR3 ZNF598 LOC105371049 MIR6511B1 TSC2 SNHG9 HS3ST6 NPW SNORA10 SNORA64 TBL3 RNF151 SNORA78 MIR4516 SLC9A3R2 NTHL1 GFER MIR1225 MSRB1
nsv1160329 Chr.16:1961727 - 2128574 on Build GRCh38 Deletion PKD1 NOXO1 RPS2 NDUFB10 SYNGR3 ZNF598 LOC105371049 MIR6511B1 TSC2 SNHG9 NPW SNORA10 SNORA64 TBL3 RNF151 SNORA78 SLC9A3R2 NTHL1 GFER MIR1225
nsv571190 Chr.16:2055054 - 2200730 on Build GRCh38 Loss PKD1 SNORD60 CASKIN1 RAB26 MIR3180-5 MIR4516 LOC105371049 MIR6511B1 MIR1225 TSC2 SNHG19 TRAF7
esv3581937 Chr.16:2072340 - 2074457 on Build GRCh38 Loss TSC2

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