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

Chr.16:1174180 on build GRCh38
Cytoband
16p13.3
Assay ID Hs03951396_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 WASIR2 PRR25 UBE2I TSR3 ABCA17P SNORD60 LMF1-AS1 LINC00254 HN1L MCRIP2 CHTF18 C16orf59 PRR35 MIR1225 ARHGDIG MIR6511B1 LOC106660606 LOC107984876 WDR24 JMJD8 NHLRC4 RHOT2 MIR5587 C1QTNF8 CCDC154 FBXL16 LOC105371046 TPSG1 SNHG9 NPW ECI1 HAGHL LMF1 RPL3L NOXO1 HS3ST6 LOC105371038 SPSB3 LOC105371049 RNF151 SLC9A3R2 RPL23AP5 GFER MLST8 SSTR5-AS1 ZNF598 C16orf91 LOC100287175 HBZ MIR4717 RPUSD1 NARFL TELO2 RPS2 SNORA78 FLJ42627 NME3 RNPS1 CASKIN1 POLR3K TBC1D24 MEIOB SNRNP25 RAB40C IGFALS BRICD5 PTX4 MIR3677 LOC107987233 MIR4516 NTHL1 NME4 DNASE1L2 PRSS29P METTL26 HBM AXIN1 MRPL28 MSLN MIR3178 MIR3180-5 RAB11FIP3 MIR6859-4 MIR3177 LOC105371047 MIR6767 FAM234A GNG13 MIR6768 LOC652276 MRPS34 FAM173A WDR90 LINC00235 TRAF7 E4F1 MIR3176 MIR662 CEMP1 TPSD1 PIGQ METRN MAPK8IP3 MPG LOC101929280 SYNGR3 HBA2 NTN3 NPRL3 PKD1 SOX8 AMDHD2 NDUFB10 RHBDF1 TSC2 CACNA1H DDX11L10 CCDC78 CLCN7 PGP HBQ1 BAIAP3 SNORA10 LUC7L LOC105371184 TBL3 TMEM8A ATP6V0C EME2 LOC729652 NUBP2 IFT140 CRAMP1 HBA1 ABCA3 SSTR5 MSRB1 CAPN15 LOC105371045 STUB1 WFIKKN1 SNHG19 RGS11 RHBDL1 LOC100134368 TPSAB1 ERVK13-1 TPSB2 KCTD5 PRSS27 FAHD1 SNORA64 PDPK1 HAGH PDIA2 MIR940 DECR2 GNPTG CCNF UNKL RAB26 TMEM204
nsv428316 Chr.16:929650 - 1363252 on Build GRCh38 Gain+Loss UBE2I TSR3 SSTR5-AS1 PRSS29P C1QTNF8 TPSG1 CACNA1H LMF1-AS1 SSTR5 TPSD1 LMF1 BAIAP3 GNPTG UNKL TPSAB1 TPSB2 SOX8
nsv1051302 Chr.16:1162523 - 1299208 on Build GRCh38 Gain PRSS29P TPSG1 CACNA1H TPSAB1 TPSB2 TPSD1
nsv1160327 Chr.16:1063695 - 1222472 on Build GRCh38 Deletion SSTR5-AS1 C1QTNF8 TPSG1 CACNA1H SSTR5
nsv571046 Chr.16:828324 - 1202441 on Build GRCh38 Gain LMF1 LOC107984876 SSTR5-AS1 C1QTNF8 CACNA1H LMF1-AS1 SSTR5 SOX8
nsv571101 Chr.16:1078406 - 1287716 on Build GRCh38 Gain SSTR5-AS1 PRSS29P C1QTNF8 TPSG1 CACNA1H TPSAB1 TPSB2 SSTR5 TPSD1
nsv471067 Chr.16:997728 - 1220162 on Build GRCh38 Gain SSTR5-AS1 C1QTNF8 CACNA1H SSTR5
nsv471066 Chr.16:893361 - 1482836 on Build GRCh38 Loss LOC107984876 UBE2I TSR3 SSTR5-AS1 C16orf91 PRSS29P C1QTNF8 CCDC154 TPSG1 CACNA1H CLCN7 LMF1-AS1 SSTR5 TPSD1 LOC105371045 LMF1 BAIAP3 GNPTG UNKL TPSAB1 TPSB2 SOX8
dgv2691n100 Chr.16:1002943 - 1247707 on Build GRCh38 Gain SSTR5-AS1 C1QTNF8 TPSG1 CACNA1H TPSAB1 TPSB2 SSTR5
nsv952899 Chr.16:1142501 - 1535899 on Build GRCh38 Deletion UBE2I TSR3 C16orf91 PRSS29P IFT140 CCDC154 TPSG1 CACNA1H TELO2 CLCN7 TPSD1 LOC105371045 LOC105371047 BAIAP3 GNPTG UNKL TPSAB1 PTX4 TPSB2 TMEM204
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 C1QTNF8 TPSG1 CACNA1H TPSAB1 TPSB2 TPSD1

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