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

Chr.16:2070888 on build GRCh38
Cytoband
16p13.3
Assay ID Hs03920722_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 19
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 EME2 RPL3L MAPK8IP3 PTX4 CEMP1 SNORD60 TRAF7 FAM234A MIR662 PKD1 LOC107984876 LOC105371049 MIR6511B1 LMF1-AS1 MCRIP2 LOC105371045 RPUSD1 WDR90 SNHG19 SYNGR3 LOC100134368 NHLRC4 GFER MIR5587 ZNF598 HBA1 IGFALS HS3ST6 FLJ42627 HBQ1 NOXO1 TPSG1 RAB40C ABCA3 LOC101929280 RAB26 POLR3K LINC00254 LOC105371038 NTHL1 GNG13 LOC105371046 DECR2 SNRNP25 DDX11L10 TMEM204 ABCA17P RAB11FIP3 MIR6768 NME4 SLC9A3R2 TBL3 LUC7L BRICD5 HN1L LOC652276 RGS11 CAPN15 SNORA10 LOC729652 NPRL3 MIR940 PDIA2 MIR3177 BAIAP3 LOC106660606 JMJD8 NTN3 NARFL TPSAB1 MIR3180-5 MSLN MLST8 TSC2 HBM RPS2 C1QTNF8 PDPK1 MEIOB LINC00235 TELO2 CRAMP1 ATP6V0C MIR1225 PRR25 PRSS29P CCDC154 AMDHD2 IFT140 MIR6859-4 STUB1 ERVK13-1 HBZ UBE2I NUBP2 FAHD1 TPSB2 E4F1 AXIN1 RHBDL1 RNPS1 SNORA78 CASKIN1 HAGH TMEM8A SNORA64 RPL23AP5 HAGHL WFIKKN1 MIR3178 CLCN7 LOC100287175 MIR3176 CCDC78 METTL26 UNKL TPSD1 FAM173A PRSS27 RHBDF1 ARHGDIG MRPL28 PGP TBC1D24 SSTR5-AS1 MIR4516 MPG MRPS34 RHOT2 CCNF MIR3677 ECI1 CACNA1H SPSB3 FBXL16 LOC107987233 NME3 KCTD5 C16orf59 GNPTG CHTF18 NDUFB10 MSRB1 LOC105371047 SOX8 SSTR5 C16orf91 WDR24 PRR35 LOC105371184 PIGQ LMF1 TSR3 WASIR2 NPW METRN DNASE1L2 SNHG9 HBA2 RNF151 MIR6767 MIR4717
nsv523037 Chr.16:1971892 - 2083900 on Build GRCh38 Loss TSC2 SYNGR3 NPW SLC9A3R2 TBL3 GFER ZNF598 NTHL1 NOXO1
nsv952901 Chr.16:1888800 - 2135899 on Build GRCh38 Deletion MSRB1 RPL3L SYNGR3 SNORA64 MIR4516 MIR1225 SLC9A3R2 TBL3 GFER ZNF598 HS3ST6 NOXO1 PKD1 SNORA10 TSC2 LOC105371049 NPW MIR6511B1 RPS2 SNHG9 NTHL1 RNF151 SNORA78 NDUFB10
nsv1160329 Chr.16:1961727 - 2128574 on Build GRCh38 Deletion SYNGR3 SNORA64 MIR1225 SLC9A3R2 TBL3 GFER ZNF598 NOXO1 PKD1 SNORA10 TSC2 LOC105371049 NPW MIR6511B1 RPS2 SNHG9 NTHL1 RNF151 SNORA78 NDUFB10
nsv571190 Chr.16:2055054 - 2200730 on Build GRCh38 Loss SNHG19 TSC2 MIR4516 LOC105371049 MIR1225 SNORD60 TRAF7 MIR6511B1 RAB26 MIR3180-5 PKD1 CASKIN1

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