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

Chr.16:1168337 on build GRCh38
Cytoband
16p13.3
Assay ID Hs03932391_cn
Size
Availability Made To Order
Catalog # 4400291
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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
esv2422427 Chr.16:10001 - 2723164 on Build GRCh38 Duplication LOC105371046 MSLN NOXO1 KCTD5 LINC00254 FAM173A WASIR2 LOC652276 SPSB3 PKD1 ERVK13-1 EME2 PDPK1 NTN3 LMF1 LMF1-AS1 IFT140 METRN CRAMP1 RAB26 DECR2 HAGH MIR6859-4 HBA1 DNASE1L2 MIR4516 MIR3178 BAIAP3 C16orf91 SYNGR3 E4F1 UNKL FAHD1 RAB40C TSR3 SNHG19 MCRIP2 SNHG9 WDR24 CCNF LOC729652 PRSS27 SNORA78 LOC101929280 TBC1D24 MIR3180-5 PRR35 NUBP2 MIR662 AXIN1 MSRB1 LOC105371038 RGS11 PRR25 STUB1 FBXL16 TMEM204 SNORA10 SNORA64 GFER NARFL TBL3 POLR3K FLJ42627 NPW TPSD1 RHOT2 HS3ST6 HBA2 LOC105371045 HBZ WFIKKN1 MIR6511B1 TSC2 MPG PIGQ DDX11L10 RPS2 RPL23AP5 HBM MLST8 CLCN7 LOC106660606 ZNF598 NHLRC4 MIR6767 LOC100134368 RNPS1 RPUSD1 IGFALS TRAF7 TMEM8A NME3 CASKIN1 PTX4 MRPS34 CHTF18 MIR5587 NPRL3 LOC107984876 LOC105371049 SNRNP25 PRSS29P CAPN15 LOC100287175 RNF151 RHBDF1 MIR1225 CACNA1H NTHL1 PDIA2 LOC105371184 UBE2I GNG13 SSTR5 LOC107987233 LUC7L WDR90 TPSG1 MIR3677 MIR4717 SOX8 CCDC78 SSTR5-AS1 PGP MIR940 AMDHD2 ECI1 FAM234A LINC00235 MRPL28 TPSB2 SNORD60 ATP6V0C NME4 CEMP1 NDUFB10 RPL3L MIR6768 MIR3176 METTL26 CCDC154 TELO2 C1QTNF8 MEIOB MAPK8IP3 ABCA3 TPSAB1 HN1L C16orf59 JMJD8 LOC105371047 MIR3177 ABCA17P GNPTG BRICD5 RHBDL1 RAB11FIP3 ARHGDIG HAGHL HBQ1 SLC9A3R2
nsv428316 Chr.16:929650 - 1363252 on Build GRCh38 Gain+Loss TPSG1 SOX8 BAIAP3 C1QTNF8 TPSAB1 SSTR5-AS1 UNKL PRSS29P TPSD1 LMF1 LMF1-AS1 GNPTG TSR3 TPSB2 CACNA1H UBE2I SSTR5
nsv1051302 Chr.16:1162523 - 1299208 on Build GRCh38 Gain TPSD1 TPSG1 TPSB2 CACNA1H TPSAB1 PRSS29P
nsv1160327 Chr.16:1063695 - 1222472 on Build GRCh38 Deletion TPSG1 CACNA1H C1QTNF8 SSTR5-AS1 SSTR5
nsv571046 Chr.16:828324 - 1202441 on Build GRCh38 Gain LMF1 LMF1-AS1 SOX8 CACNA1H C1QTNF8 LOC107984876 SSTR5-AS1 SSTR5
nsv571101 Chr.16:1078406 - 1287716 on Build GRCh38 Gain TPSD1 TPSG1 TPSB2 CACNA1H C1QTNF8 TPSAB1 SSTR5-AS1 SSTR5 PRSS29P
nsv471067 Chr.16:997728 - 1220162 on Build GRCh38 Gain CACNA1H C1QTNF8 SSTR5-AS1 SSTR5
nsv471066 Chr.16:893361 - 1482836 on Build GRCh38 Loss TPSG1 CLCN7 CCDC154 SOX8 BAIAP3 C1QTNF8 C16orf91 LOC107984876 TPSAB1 SSTR5-AS1 UNKL PRSS29P TPSD1 LMF1 LMF1-AS1 LOC105371045 GNPTG TSR3 TPSB2 CACNA1H UBE2I SSTR5
dgv2691n100 Chr.16:1002943 - 1247707 on Build GRCh38 Gain TPSG1 TPSB2 CACNA1H C1QTNF8 TPSAB1 SSTR5-AS1 SSTR5
nsv952899 Chr.16:1142501 - 1535899 on Build GRCh38 Deletion TPSG1 CLCN7 TMEM204 CCDC154 TELO2 BAIAP3 C16orf91 TPSAB1 UNKL PRSS29P TPSD1 IFT140 LOC105371045 LOC105371047 GNPTG TSR3 TPSB2 CACNA1H UBE2I PTX4
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 TPSD1 TPSG1 TPSB2 CACNA1H C1QTNF8 TPSAB1

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