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

Chr.16:2052698 on build GRCh38
Cytoband
16p13.3
Assay ID Hs03926943_cn
Size
Availability Made To Order
Catalog # 4400291
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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 4
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
AK294548.1
AK295672.1
AK295728.1
AK299343.1
BC150300.1
BX647816.1 CAI46010.1
DA316794.1
DC402106.1
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 SYNGR3 JMJD8 GNPTG SSTR5 ATP6V0C SNORA64 MRPS34 RHBDF1 ERVK13-1 MLST8 DDX11L10 LOC105371046 MIR6767 LOC107984876 BRICD5 HAGH AMDHD2 DECR2 RPUSD1 FAHD1 RPL23AP5 METTL26 MIR940 PRR35 WDR90 NHLRC4 PRSS27 FAM173A LINC00254 HBA2 PDIA2 HAGHL FBXL16 UBE2I CASKIN1 RNF151 HBA1 POLR3K ABCA17P PGP CEMP1 NME4 MSLN LOC105371045 HBQ1 BAIAP3 MCRIP2 RPL3L LOC105371184 TMEM204 LINC00235 IFT140 SNORD60 MEIOB NTHL1 NOXO1 LOC101929280 RPS2 SSTR5-AS1 MIR3177 GNG13 RNPS1 RHOT2 CCDC78 SNORA78 KCTD5 CLCN7 PRR25 MIR6859-4 CRAMP1 MIR6768 PRSS29P MIR4516 TSC2 TPSB2 LOC107987233 LOC652276 HBZ SNORA10 CCNF MIR4717 WDR24 RAB26 TMEM8A UNKL SNHG9 EME2 LMF1-AS1 METRN ZNF598 LOC105371049 MIR6511B1 TBL3 TBC1D24 FLJ42627 CAPN15 NPW ABCA3 LUC7L HBM RHBDL1 ECI1 SNRNP25 LOC729652 E4F1 FAM234A MIR5587 TPSG1 C1QTNF8 NME3 PKD1 MRPL28 LOC100134368 C16orf91 MIR1225 SOX8 NARFL SLC9A3R2 RAB40C TRAF7 MIR662 IGFALS TSR3 STUB1 LMF1 HN1L LOC105371047 RAB11FIP3 HS3ST6 NUBP2 WASIR2 LOC106660606 PIGQ CCDC154 NTN3 MAPK8IP3 MIR3176 GFER AXIN1 C16orf59 NDUFB10 LOC105371038 MSRB1 CACNA1H RGS11 LOC100287175 SPSB3 TPSAB1 ARHGDIG PDPK1 WFIKKN1 MIR3677 MIR3178 MPG NPRL3 TPSD1 TELO2 DNASE1L2 PTX4 MIR3180-5 CHTF18 SNHG19
nsv523037 Chr.16:1971892 - 2083900 on Build GRCh38 Loss SYNGR3 NPW GFER ZNF598 NTHL1 SLC9A3R2 TBL3 NOXO1 TSC2
nsv952901 Chr.16:1888800 - 2135899 on Build GRCh38 Deletion SYNGR3 SNORA78 SNHG9 PKD1 ZNF598 LOC105371049 SNORA64 MIR6511B1 TBL3 HS3ST6 RPL3L MIR1225 MIR4516 TSC2 NPW RNF151 GFER NTHL1 SLC9A3R2 SNORA10 NDUFB10 NOXO1 MSRB1 RPS2
nsv1160329 Chr.16:1961727 - 2128574 on Build GRCh38 Deletion SYNGR3 SNORA78 SNHG9 PKD1 ZNF598 LOC105371049 SNORA64 MIR6511B1 TBL3 MIR1225 TSC2 NPW RNF151 GFER NTHL1 SLC9A3R2 SNORA10 NDUFB10 NOXO1 RPS2

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