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See other CACNA1H CNV Assays ›
Gene Symbol
CACNA1H
Assay Reference Genome
Location

Chr.16:1159535 on build GRCh38
Cytoband
16p13.3
Assay ID Hs03928128_cn
Size
Availability Made To Order
Catalog # 4400291
Price
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Assay Details

Target Gene Details

Entrez Gene ID:

 8912

Gene Name:

 calcium voltage-gated channel subunit alpha1 H

Gene Aliases:

 CACNA1HB, Cav3.2, ECA6, EIG6

Location:

 Chr.16:1153241-1221772 on Build GRCh38

Assay Gene Location:

 Within Intron 2
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
CACNA1H NM_001005407.1 NP_001005407.1
NM_021098.2 NP_066921.2
XM_005255652.4 XP_005255709.1
XM_006720963.3 XP_006721026.1
XM_006720964.3 XP_006721027.1
XM_006720965.3 XP_006721028.1
XM_006720967.3 XP_006721030.1
XM_006720968.3 XP_006721031.1
XM_011522727.2 XP_011521029.1
XM_017023819.1 XP_016879308.1
XM_017023820.1 XP_016879309.1
XM_017023821.1 XP_016879310.1
AF051946.3 AAC67239.3
AF073931.1 AAD17668.1
AJ420779.1 CAD12646.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv571046 Chr.16:828324 - 1202441 on Build GRCh38 Gain CACNA1H SSTR5-AS1 SSTR5 C1QTNF8 LOC107984876 LMF1-AS1 LMF1 SOX8
esv2422427 Chr.16:10001 - 2723164 on Build GRCh38 Duplication RPS2 SNORA64 TMEM204 MEIOB LMF1-AS1 UBE2I CASKIN1 IFT140 RHOT2 PIGQ LOC100287175 MIR6859-4 HN1L MIR4516 E4F1 LINC00235 MIR6511B1 MIR4717 AMDHD2 DNASE1L2 FAM173A SOX8 LOC107987233 LOC106660606 WDR24 C1QTNF8 HBZ SNHG19 TRAF7 ARHGDIG TMEM8A NDUFB10 RAB26 C16orf59 NPRL3 NHLRC4 MIR3177 TSR3 RHBDF1 RAB40C MRPL28 LOC729652 TPSB2 WFIKKN1 PGP RHBDL1 LINC00254 FBXL16 PTX4 RNF151 CRAMP1 ECI1 SSTR5 LOC652276 NPW RGS11 LOC100134368 TPSAB1 LOC105371038 MIR3176 SNORA78 PRSS29P NME4 KCTD5 ATP6V0C LOC105371046 SNORA10 SNRNP25 BAIAP3 TPSD1 CHTF18 MSLN CEMP1 FAM234A NTHL1 HBQ1 SNHG9 PRR25 RPL3L IGFALS ABCA17P DECR2 NUBP2 C16orf91 SPSB3 MAPK8IP3 DDX11L10 TBL3 ZNF598 METRN PRSS27 TPSG1 HS3ST6 NTN3 MIR1225 ABCA3 AXIN1 HBM GFER TBC1D24 LUC7L STUB1 MIR3677 CAPN15 METTL26 CCDC154 ERVK13-1 HBA1 FAHD1 EME2 WDR90 MCRIP2 TELO2 MIR3178 SSTR5-AS1 UNKL SNORD60 LOC107984876 HBA2 LMF1 SLC9A3R2 MIR940 PDIA2 MIR6767 MIR662 HAGH NOXO1 RAB11FIP3 MRPS34 JMJD8 GNG13 MPG MIR3180-5 CLCN7 RPUSD1 MIR5587 WASIR2 BRICD5 CCNF LOC105371045 LOC101929280 PKD1 POLR3K NME3 CACNA1H PRR35 GNPTG MIR6768 RPL23AP5 CCDC78 HAGHL MLST8 RNPS1 MSRB1 FLJ42627 PDPK1 LOC105371049 NARFL TSC2 LOC105371184 SYNGR3 LOC105371047
nsv571101 Chr.16:1078406 - 1287716 on Build GRCh38 Gain CACNA1H SSTR5-AS1 SSTR5 C1QTNF8 TPSAB1 PRSS29P TPSD1 TPSG1 TPSB2
nsv471067 Chr.16:997728 - 1220162 on Build GRCh38 Gain CACNA1H SSTR5-AS1 SSTR5 C1QTNF8
nsv471066 Chr.16:893361 - 1482836 on Build GRCh38 Loss CACNA1H GNPTG CCDC154 C1QTNF8 LMF1-AS1 BAIAP3 UBE2I TPSD1 TPSG1 CLCN7 SSTR5-AS1 UNKL SSTR5 LOC105371045 TPSAB1 LOC107984876 LMF1 PRSS29P C16orf91 TSR3 SOX8 TPSB2
dgv2691n100 Chr.16:1002943 - 1247707 on Build GRCh38 Gain CACNA1H SSTR5-AS1 SSTR5 C1QTNF8 TPSAB1 TPSG1 TPSB2
nsv428316 Chr.16:929650 - 1363252 on Build GRCh38 Gain+Loss CACNA1H GNPTG C1QTNF8 LMF1-AS1 BAIAP3 UBE2I TPSD1 TPSG1 SSTR5-AS1 UNKL SSTR5 TPSAB1 LMF1 PRSS29P TSR3 SOX8 TPSB2
nsv952899 Chr.16:1142501 - 1535899 on Build GRCh38 Deletion CACNA1H GNPTG CCDC154 TMEM204 PTX4 BAIAP3 UBE2I TPSD1 IFT140 TPSG1 TELO2 CLCN7 UNKL LOC105371045 TPSAB1 LOC105371047 PRSS29P C16orf91 TSR3 TPSB2
nsv1160327 Chr.16:1063695 - 1222472 on Build GRCh38 Deletion CACNA1H SSTR5-AS1 SSTR5 C1QTNF8 TPSG1
dgv4841n54 Chr.16:1142213 - 1220162 on Build GRCh38 Loss CACNA1H
nsv457326 Chr.16:1148938 - 1220162 on Build GRCh38 Loss CACNA1H
nsv571102 Chr.16:1084818 - 1257675 on Build GRCh38 Loss CACNA1H C1QTNF8 TPSAB1 TPSD1 TPSG1 TPSB2

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