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

Chr.16:2052191 on build GRCh38
Cytoband
16p13.3
Assay ID Hs03935723_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 GNG13 NARFL WDR24 PRSS29P RNF151 STUB1 MIR6859-4 SLC9A3R2 ATP6V0C MIR1225 FBXL16 SNHG9 RGS11 MIR3180-5 LOC105371046 HAGHL FAHD1 KCTD5 PTX4 LOC729652 RAB40C DDX11L10 MRPS34 NTHL1 SSTR5-AS1 FAM173A LOC105371049 TBL3 CCDC78 IGFALS TRAF7 MIR6511B1 RPL23AP5 ERVK13-1 MCRIP2 PDPK1 TELO2 RPS2 WDR90 TPSG1 HAGH LOC105371047 CCNF LINC00235 RHBDL1 SNORD60 NME3 RNPS1 PIGQ SNRNP25 RPL3L MLST8 TSR3 TMEM8A C16orf59 CASKIN1 ABCA17P C16orf91 TPSAB1 RPUSD1 GFER POLR3K MAPK8IP3 UBE2I PRR35 SNORA64 FAM234A AXIN1 LOC652276 FLJ42627 ARHGDIG NPW MIR3176 CAPN15 WASIR2 LOC100134368 MSLN LMF1 SNORA78 MIR5587 TSC2 EME2 MIR4717 LOC105371038 LOC107987233 NOXO1 PKD1 PRSS27 UNKL MIR3178 MIR4516 NUBP2 TMEM204 MSRB1 TPSB2 LOC105371045 CRAMP1 LINC00254 MIR6768 LOC105371184 LOC107984876 LOC101929280 PRR25 CEMP1 IFT140 NME4 MIR662 MIR3677 BAIAP3 TPSD1 PDIA2 SYNGR3 NPRL3 LUC7L GNPTG SSTR5 MIR940 SPSB3 HBM BRICD5 E4F1 CLCN7 WFIKKN1 PGP MRPL28 NTN3 SOX8 JMJD8 LOC100287175 ECI1 AMDHD2 CACNA1H MIR3177 ABCA3 SNORA10 ZNF598 CCDC154 MEIOB RHBDF1 DNASE1L2 HBQ1 NHLRC4 MIR6767 HBA2 HN1L METTL26 MPG RHOT2 SNHG19 DECR2 HBA1 RAB11FIP3 RAB26 METRN HBZ TBC1D24 NDUFB10 C1QTNF8 LMF1-AS1 LOC106660606 CHTF18 HS3ST6
nsv523037 Chr.16:1971892 - 2083900 on Build GRCh38 Loss NTHL1 ZNF598 NOXO1 GFER SLC9A3R2 TSC2 NPW TBL3 SYNGR3
nsv952901 Chr.16:1888800 - 2135899 on Build GRCh38 Deletion NTHL1 NOXO1 PKD1 RNF151 SLC9A3R2 NPW MIR1225 LOC105371049 RPL3L TBL3 SNHG9 MIR4516 MIR6511B1 SYNGR3 SNORA10 NDUFB10 ZNF598 RPS2 SNORA78 GFER TSC2 MSRB1 SNORA64 HS3ST6
nsv1160329 Chr.16:1961727 - 2128574 on Build GRCh38 Deletion NTHL1 NOXO1 PKD1 RNF151 SLC9A3R2 NPW MIR1225 LOC105371049 TBL3 SNHG9 MIR6511B1 SYNGR3 SNORA10 NDUFB10 ZNF598 RPS2 SNORA78 GFER TSC2 SNORA64

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