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

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