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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 ERVK13-1 MIR3176 MIR662 ECI1 KCTD5 RGS11 NUBP2 SNHG9 LOC100287175 SNORA10 EME2 RPUSD1 NME3 SNORA78 LMF1 PGP SLC9A3R2 AMDHD2 FAHD1 BAIAP3 ARHGDIG TSC2 CLCN7 LOC107984876 FAM173A DDX11L10 RHBDL1 GFER CCDC154 TMEM204 LOC729652 LOC105371045 MIR6859-4 WFIKKN1 NPW E4F1 NOXO1 LOC105371049 LOC652276 SPSB3 MIR6768 RHOT2 PDPK1 ZNF598 MIR3178 CEMP1 PDIA2 CASKIN1 C16orf91 CAPN15 LOC101929280 HBA2 ABCA3 NTN3 HBQ1 TMEM8A DECR2 FBXL16 C1QTNF8 MIR6511B1 NDUFB10 RNPS1 PIGQ AXIN1 UNKL HAGH LOC105371047 MPG PRSS29P SSTR5 SYNGR3 DNASE1L2 NHLRC4 MIR6767 MRPL28 TPSG1 SOX8 IGFALS RHBDF1 PRSS27 METRN SNHG19 GNPTG FLJ42627 PKD1 HBM GNG13 TELO2 LMF1-AS1 MSLN IFT140 ABCA17P MEIOB CHTF18 LOC100134368 METTL26 MRPS34 MIR3677 RAB40C LOC105371184 LOC105371038 LOC107987233 LINC00235 LOC106660606 MIR1225 PRR25 TPSD1 HBZ MIR4516 NARFL SNRNP25 MIR3180-5 RPL3L MIR940 FAM234A RAB26 UBE2I SNORA64 TSR3 MAPK8IP3 WDR90 LINC00254 LUC7L MSRB1 C16orf59 NTHL1 CCNF CRAMP1 TPSAB1 LOC105371046 STUB1 PRR35 MLST8 SNORD60 POLR3K TBC1D24 RNF151 WDR24 MIR5587 HAGHL RAB11FIP3 RPS2 NME4 HBA1 MIR4717 JMJD8 ATP6V0C RPL23AP5 PTX4 WASIR2 CCDC78 BRICD5 HN1L TBL3 SSTR5-AS1 MCRIP2 CACNA1H TRAF7 TPSB2 HS3ST6 NPRL3 MIR3177
nsv471072 Chr.16:1971892 - 2317508 on Build GRCh38 Loss SNHG19 E4F1 PKD1 ECI1 NTHL1 NOXO1 LOC105371049 MLST8 SNORD60 MIR3677 ZNF598 PGP CASKIN1 LOC106660606 SLC9A3R2 MIR1225 MIR4516 ABCA3 TSC2 MIR3180-5 MIR4717 MIR940 MIR6511B1 RAB26 RNPS1 GFER SYNGR3 DNASE1L2 BRICD5 TBL3 TRAF7 NPW
nsv952901 Chr.16:1888800 - 2135899 on Build GRCh38 Deletion RPL3L MIR6511B1 PKD1 NDUFB10 NTHL1 NOXO1 LOC105371049 GFER SNHG9 SNORA64 SYNGR3 SNORA10 RNF151 ZNF598 SNORA78 TBL3 MSRB1 SLC9A3R2 MIR1225 MIR4516 RPS2 HS3ST6 NPW TSC2
nsv1160329 Chr.16:1961727 - 2128574 on Build GRCh38 Deletion MIR6511B1 PKD1 NDUFB10 NTHL1 NOXO1 LOC105371049 GFER SNHG9 SNORA64 SYNGR3 SNORA10 RNF151 ZNF598 SNORA78 TBL3 SLC9A3R2 MIR1225 RPS2 NPW TSC2
nsv457349 Chr.16:2055054 - 2200730 on Build GRCh38 Loss MIR3180-5 SNHG19 MIR6511B1 RAB26 PKD1 CASKIN1 MIR1225 LOC105371049 MIR4516 TRAF7 SNORD60 TSC2

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