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

Chr.16:1162079 on build GRCh38
Cytoband
16p13.3
Assay ID Hs03931508_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 IGFALS CCDC154 AXIN1 TSC2 NTHL1 HBM TELO2 FAHD1 RHBDF1 JMJD8 TPSAB1 UNKL DECR2 C16orf59 PGP IFT140 PIGQ NTN3 LOC105371184 LINC00235 FBXL16 LOC105371047 WDR24 AMDHD2 CEMP1 RPUSD1 PKD1 PRSS29P TPSG1 CCNF PTX4 LOC100134368 LOC105371049 DDX11L10 TRAF7 SSTR5-AS1 NUBP2 MLST8 NPW BRICD5 NHLRC4 C1QTNF8 RPS2 PRR25 NPRL3 MRPS34 MRPL28 TPSD1 HAGH SNORD60 RGS11 CAPN15 FAM173A ARHGDIG MSLN MIR662 RHBDL1 HBA2 PDIA2 TBL3 PDPK1 SOX8 HBQ1 SNORA78 SPSB3 SNRNP25 PRR35 RHOT2 CACNA1H LMF1-AS1 KCTD5 E4F1 LOC106660606 RPL23AP5 LOC105371045 MIR1225 LINC00254 LOC729652 LOC107987233 RNF151 RAB11FIP3 HN1L MIR940 HBA1 MIR6859-4 ABCA3 CCDC78 SNORA10 LMF1 MIR3177 HS3ST6 GNPTG METTL26 TMEM204 HBZ LOC105371046 WASIR2 RNPS1 RPL3L STUB1 NOXO1 NARFL DNASE1L2 RAB40C MPG TMEM8A LOC107984876 MCRIP2 CASKIN1 LOC100287175 UBE2I GNG13 MIR3180-5 MIR3176 CRAMP1 LOC101929280 MIR5587 FAM234A MIR3178 ZNF598 C16orf91 PRSS27 GFER WDR90 LOC105371038 LOC652276 NME4 BAIAP3 TSR3 LUC7L ERVK13-1 SNHG9 TPSB2 POLR3K ABCA17P HAGHL MIR4717 MIR4516 RAB26 SNORA64 MIR6768 SSTR5 ATP6V0C TBC1D24 MEIOB MIR6767 SLC9A3R2 MAPK8IP3 MIR3677 FLJ42627 NDUFB10 SNHG19 EME2 WFIKKN1 METRN NME3 MIR6511B1 CLCN7 MSRB1 CHTF18 SYNGR3 ECI1
nsv428316 Chr.16:929650 - 1363252 on Build GRCh38 Gain+Loss LMF1 UBE2I BAIAP3 TSR3 C1QTNF8 GNPTG CACNA1H LMF1-AS1 TPSB2 TPSD1 TPSAB1 PRSS29P UNKL TPSG1 SSTR5 SSTR5-AS1 SOX8
nsv1160327 Chr.16:1063695 - 1222472 on Build GRCh38 Deletion TPSG1 C1QTNF8 CACNA1H SSTR5 SSTR5-AS1
esv3637605 Chr.16:1160548 - 1168281 on Build GRCh38 Loss CACNA1H
nsv571046 Chr.16:828324 - 1202441 on Build GRCh38 Gain LMF1 C1QTNF8 CACNA1H SSTR5 LMF1-AS1 SSTR5-AS1 LOC107984876 SOX8
nsv571101 Chr.16:1078406 - 1287716 on Build GRCh38 Gain PRSS29P TPSG1 C1QTNF8 CACNA1H SSTR5 SSTR5-AS1 TPSB2 TPSD1 TPSAB1
nsv471067 Chr.16:997728 - 1220162 on Build GRCh38 Gain C1QTNF8 CACNA1H SSTR5 SSTR5-AS1
nsv471066 Chr.16:893361 - 1482836 on Build GRCh38 Loss CCDC154 LMF1 UBE2I BAIAP3 TSR3 C1QTNF8 GNPTG CACNA1H LMF1-AS1 TPSB2 TPSD1 TPSAB1 PRSS29P UNKL TPSG1 LOC105371045 CLCN7 C16orf91 SSTR5 SSTR5-AS1 LOC107984876 SOX8
dgv2691n100 Chr.16:1002943 - 1247707 on Build GRCh38 Gain TPSG1 C1QTNF8 CACNA1H SSTR5 SSTR5-AS1 TPSB2 TPSAB1
nsv952899 Chr.16:1142501 - 1535899 on Build GRCh38 Deletion CCDC154 IFT140 UBE2I TELO2 BAIAP3 LOC105371047 TSR3 GNPTG CACNA1H TMEM204 TPSB2 TPSD1 TPSAB1 PRSS29P UNKL TPSG1 LOC105371045 PTX4 CLCN7 C16orf91
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 TPSG1 C1QTNF8 CACNA1H TPSB2 TPSD1 TPSAB1

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