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See other NTHL1 CNV Assays ›
Gene Symbol
NTHL1
Assay Reference Genome
Location

Chr.16:2047840 on build GRCh38
Cytoband
16p13.3
Assay ID Hs00698259_cn
Size
Availability Made To Order
Catalog # 4400291
Price
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Assay Details

Target Gene Details

Entrez Gene ID:

 4913

Gene Name:

 nth-like DNA glycosylase 1

Gene Aliases:

 FAP3, NTH1, OCTS3, hNTH1

Location:

 Chr.16:2039815-2047872 on Build GRCh38

Assay Gene Location:

 Overlaps - Exon 1
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
NTHL1 NM_001318193.1 NP_001305122.1
NM_001318194.1 NP_001305123.1
NM_002528.6 NP_002519.1
XM_017023253.1 XP_016878742.1
AB001575.1 BAA19413.1
BC000391.2 AAH00391.2
BC003014.1 AAH03014.1
HY057336.1
HY094895.1
U79718.1 AAB41534.1
U81285.1 AAC51136.1
Y09687.1 CAA70865.1

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:

 Overlaps - Exon 1
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
TSC2 XM_011522638.2 XP_011520940.2
XM_017023617.1 XP_016879106.1

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

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More Information


Set Membership:

 Intragenic Non-exonic DGV Variation

Panther Classification:

Gene Ontology Categories:

Function(s) Process(es)


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