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

Chr.16:1157744 on build GRCh38
Cytoband
16p13.3
Assay ID Hs03927720_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 LOC107984876 LMF1-AS1 CACNA1H SOX8 SSTR5 SSTR5-AS1 LMF1 C1QTNF8
esv2422427 Chr.16:10001 - 2723164 on Build GRCh38 Duplication DDX11L10 HBZ MIR6767 PGP IFT140 LOC101929280 NTN3 SNORA78 FAM234A LOC107984876 LMF1-AS1 SNORD60 ABCA17P ZNF598 RGS11 LOC106660606 MIR1225 BAIAP3 CAPN15 MIR5587 POLR3K NME4 METRN HBA2 MAPK8IP3 HBA1 WDR90 WDR24 PRR25 SSTR5-AS1 TPSG1 MRPL28 MSLN C16orf59 FLJ42627 PTX4 WFIKKN1 LMF1 NUBP2 SPSB3 SYNGR3 ECI1 ERVK13-1 MIR4516 TBL3 MIR662 FAM173A LINC00254 MPG NPRL3 DNASE1L2 GFER CLCN7 ABCA3 PRSS29P LINC00235 SLC9A3R2 METTL26 TRAF7 NPW BRICD5 WASIR2 AMDHD2 CHTF18 MIR3178 NOXO1 MEIOB RHBDL1 SOX8 SSTR5 TELO2 CCNF MIR940 C16orf91 RNPS1 NME3 GNPTG HN1L MSRB1 CASKIN1 EME2 PRR35 MIR6768 CCDC154 LOC107987233 LOC105371184 LOC105371049 LOC100134368 NHLRC4 RPL23AP5 LOC100287175 LOC105371047 TPSAB1 TPSB2 MCRIP2 CACNA1H HBQ1 MIR6859-4 RPUSD1 RPS2 NARFL LOC105371046 TMEM8A NTHL1 PDIA2 RHBDF1 DECR2 UNKL SNORA10 E4F1 LOC729652 SNRNP25 KCTD5 MIR3177 FBXL16 TSC2 LOC105371045 RAB11FIP3 HAGHL RAB40C PDPK1 TSR3 RAB26 TMEM204 AXIN1 GNG13 MIR4717 IGFALS STUB1 MRPS34 CRAMP1 LUC7L UBE2I MIR6511B1 PKD1 MLST8 ATP6V0C RHOT2 HAGH JMJD8 SNORA64 MIR3176 RPL3L MIR3180-5 RNF151 MIR3677 CCDC78 PRSS27 SNHG9 TBC1D24 LOC105371038 TPSD1 HBM ARHGDIG SNHG19 FAHD1 CEMP1 NDUFB10 LOC652276 HS3ST6 PIGQ C1QTNF8
nsv571101 Chr.16:1078406 - 1287716 on Build GRCh38 Gain TPSD1 CACNA1H PRSS29P SSTR5 SSTR5-AS1 TPSG1 TPSAB1 C1QTNF8 TPSB2
nsv471067 Chr.16:997728 - 1220162 on Build GRCh38 Gain CACNA1H SSTR5 SSTR5-AS1 C1QTNF8
nsv471066 Chr.16:893361 - 1482836 on Build GRCh38 Loss LOC105371045 TSR3 SOX8 SSTR5 SSTR5-AS1 TPSG1 TPSAB1 C16orf91 UNKL TPSB2 GNPTG TPSD1 LOC107984876 LMF1-AS1 CACNA1H CLCN7 PRSS29P BAIAP3 UBE2I LMF1 CCDC154 C1QTNF8
dgv2691n100 Chr.16:1002943 - 1247707 on Build GRCh38 Gain CACNA1H SSTR5 SSTR5-AS1 TPSG1 TPSAB1 C1QTNF8 TPSB2
nsv428316 Chr.16:929650 - 1363252 on Build GRCh38 Gain+Loss TSR3 SOX8 SSTR5 SSTR5-AS1 TPSG1 TPSAB1 UNKL TPSB2 GNPTG TPSD1 LMF1-AS1 CACNA1H PRSS29P BAIAP3 UBE2I LMF1 C1QTNF8
nsv952899 Chr.16:1142501 - 1535899 on Build GRCh38 Deletion LOC105371045 LOC105371047 TSR3 TMEM204 TELO2 IFT140 TPSG1 TPSAB1 C16orf91 UNKL TPSB2 GNPTG TPSD1 CACNA1H CLCN7 PRSS29P PTX4 BAIAP3 UBE2I CCDC154
nsv1160327 Chr.16:1063695 - 1222472 on Build GRCh38 Deletion CACNA1H SSTR5 SSTR5-AS1 TPSG1 C1QTNF8
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 CACNA1H TPSG1 TPSAB1 C1QTNF8 TPSB2

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