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

Chr.16:2058974 on build GRCh38
Cytoband
16p13.3
Assay ID Hs03929749_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 11
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 MIR3180-5 MCRIP2 TELO2 MRPS34 RGS11 SOX8 TBC1D24 MIR4516 LOC107987233 RAB40C TMEM8A LOC100134368 SNORA78 UBE2I CHTF18 CRAMP1 PRR25 LOC105371049 LUC7L WDR24 RPL23AP5 IFT140 MIR4717 DNASE1L2 PTX4 AXIN1 ABCA3 LINC00254 C16orf59 EME2 RHBDF1 SYNGR3 SNRNP25 LOC105371047 NHLRC4 MAPK8IP3 AMDHD2 MIR940 NUBP2 NARFL SNORA10 LOC106660606 DECR2 GNPTG CEMP1 HAGH MIR662 NPW PDIA2 NME4 TPSD1 MSRB1 SSTR5 MRPL28 RHBDL1 PRSS29P LOC729652 MIR3677 ECI1 JMJD8 POLR3K STUB1 C16orf91 CCDC154 HBA1 GNG13 LMF1-AS1 NTN3 RAB11FIP3 RAB26 LOC107984876 NME3 RPUSD1 WFIKKN1 PRSS27 MIR3177 DDX11L10 HBM TPSG1 RNF151 MIR1225 PRR35 RNPS1 FBXL16 WDR90 HAGHL HBZ LOC101929280 E4F1 MLST8 SNORA64 SNORD60 RHOT2 LOC100287175 CLCN7 ZNF598 MPG CAPN15 FLJ42627 METRN CASKIN1 GFER HS3ST6 SPSB3 NTHL1 RPL3L ARHGDIG NDUFB10 MSLN LOC105371046 LMF1 FAM234A WASIR2 MIR5587 UNKL TPSAB1 LOC105371045 BAIAP3 TBL3 METTL26 HBQ1 ABCA17P LOC105371184 LOC652276 CCDC78 SNHG9 TRAF7 MIR6767 NPRL3 LOC105371038 FAM173A HN1L HBA2 BRICD5 TSC2 SSTR5-AS1 RPS2 MIR6511B1 TMEM204 C1QTNF8 MIR6859-4 LINC00235 PKD1 IGFALS ATP6V0C ERVK13-1 MIR3178 MIR6768 PDPK1 PIGQ SLC9A3R2 KCTD5 MEIOB TSR3 SNHG19 TPSB2 CCNF CACNA1H MIR3176 NOXO1 PGP FAHD1
nsv523037 Chr.16:1971892 - 2083900 on Build GRCh38 Loss TBL3 TSC2 ZNF598 NPW NOXO1 SLC9A3R2 GFER NTHL1 SYNGR3
nsv952901 Chr.16:1888800 - 2135899 on Build GRCh38 Deletion TBL3 TSC2 ZNF598 NPW RNF151 SLC9A3R2 GFER HS3ST6 MIR1225 RPS2 MSRB1 MIR4516 MIR6511B1 NTHL1 SYNGR3 SNHG9 RPL3L NDUFB10 PKD1 SNORA78 NOXO1 LOC105371049 SNORA64 SNORA10
nsv1160329 Chr.16:1961727 - 2128574 on Build GRCh38 Deletion TBL3 TSC2 ZNF598 NPW RNF151 SLC9A3R2 GFER MIR1225 RPS2 MIR6511B1 NTHL1 SYNGR3 SNHG9 NDUFB10 PKD1 SNORA78 NOXO1 LOC105371049 SNORA64 SNORA10
nsv571190 Chr.16:2055054 - 2200730 on Build GRCh38 Loss RAB26 TRAF7 MIR3180-5 PKD1 TSC2 LOC105371049 CASKIN1 MIR1225 SNORD60 MIR4516 SNHG19 MIR6511B1

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