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

Chr.16:2069261 on build GRCh38
Cytoband
16p13.3
Assay ID Hs03932511_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 18
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 TSR3 PRSS29P RNPS1 MSRB1 SNORA78 MIR6859-4 MIR3677 LOC105371046 MIR662 NARFL RPL3L TELO2 JMJD8 LINC00235 CCDC78 PTX4 CCDC154 LOC107987233 SNRNP25 RPUSD1 DECR2 MIR3178 MIR4516 MIR4717 BRICD5 CCNF LOC105371047 WFIKKN1 MIR6768 AMDHD2 CRAMP1 LOC107984876 ZNF598 RHOT2 LOC101929280 LUC7L MIR6767 SOX8 STUB1 ATP6V0C FLJ42627 RHBDL1 RAB40C FAM234A CEMP1 GNG13 TRAF7 MCRIP2 MIR1225 MPG TSC2 EME2 KCTD5 SLC9A3R2 SNHG19 PDIA2 IGFALS SNORA64 PKD1 GNPTG NHLRC4 LMF1-AS1 RPS2 ARHGDIG WDR90 NME3 NUBP2 PRSS27 LOC106660606 NPW HN1L SNHG9 SYNGR3 ABCA3 MSLN LOC105371038 NME4 RHBDF1 RAB26 FAM173A C16orf59 PRR35 SSTR5-AS1 HAGHL MIR6511B1 RNF151 NTN3 LINC00254 SPSB3 HBA2 TPSB2 TPSG1 RGS11 SNORD60 TBC1D24 TMEM8A LOC652276 LOC105371049 NPRL3 PRR25 NOXO1 GFER PGP UNKL WASIR2 CASKIN1 IFT140 POLR3K LMF1 HBM FAHD1 HAGH MIR3180-5 C1QTNF8 RPL23AP5 HBZ C16orf91 LOC100134368 TPSAB1 MIR3177 METTL26 CLCN7 NTHL1 SSTR5 E4F1 PIGQ TBL3 MAPK8IP3 NDUFB10 LOC729652 MRPL28 MRPS34 HS3ST6 MIR940 TMEM204 DDX11L10 MEIOB CACNA1H MIR3176 DNASE1L2 LOC105371045 LOC105371184 MLST8 BAIAP3 TPSD1 ECI1 WDR24 CHTF18 FBXL16 UBE2I ERVK13-1 RAB11FIP3 SNORA10 MIR5587 PDPK1 METRN AXIN1 ABCA17P HBQ1 CAPN15 HBA1 LOC100287175
nsv523037 Chr.16:1971892 - 2083900 on Build GRCh38 Loss NTHL1 NPW ZNF598 NOXO1 TSC2 SYNGR3 TBL3 GFER SLC9A3R2
nsv952901 Chr.16:1888800 - 2135899 on Build GRCh38 Deletion HS3ST6 SNORA10 MIR1225 MSRB1 NPW SNHG9 TSC2 SNORA78 SYNGR3 MIR4516 SLC9A3R2 RPL3L LOC105371049 NTHL1 SNORA64 PKD1 MIR6511B1 ZNF598 NOXO1 RPS2 RNF151 TBL3 GFER NDUFB10
nsv1160329 Chr.16:1961727 - 2128574 on Build GRCh38 Deletion SNORA10 MIR1225 NPW SNHG9 TSC2 SNORA78 SYNGR3 SLC9A3R2 LOC105371049 NTHL1 SNORA64 PKD1 MIR6511B1 ZNF598 NOXO1 RPS2 RNF151 TBL3 GFER NDUFB10
nsv571190 Chr.16:2055054 - 2200730 on Build GRCh38 Loss SNHG19 CASKIN1 RAB26 LOC105371049 PKD1 TRAF7 MIR1225 MIR3180-5 MIR6511B1 TSC2 MIR4516 SNORD60

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