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

Chr.16:1156894 on build GRCh38
Cytoband
16p13.3
Assay ID Hs03935987_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 SSTR5 C1QTNF8 SOX8 LMF1-AS1 LOC107984876 LMF1 SSTR5-AS1 CACNA1H
esv2422427 Chr.16:10001 - 2723164 on Build GRCh38 Duplication MSLN AXIN1 SNHG9 MLST8 SOX8 NTN3 LOC105371184 DDX11L10 SYNGR3 CACNA1H BAIAP3 HAGHL TSC2 LOC106660606 ERVK13-1 NPW LOC101929280 LUC7L MIR6859-4 MIR1225 ZNF598 LOC105371046 SSTR5 FLJ42627 MSRB1 PDIA2 SPSB3 FAM173A MEIOB MRPL28 SNORD60 GNPTG TMEM204 TPSB2 FAHD1 NTHL1 RAB11FIP3 LOC107987233 PIGQ MIR6767 SLC9A3R2 HAGH RHOT2 HN1L C16orf59 SNORA10 TMEM8A LMF1-AS1 HBQ1 LOC652276 MIR3677 MIR940 NPRL3 LOC105371038 PGP LOC107984876 GFER METRN ABCA17P NHLRC4 TBC1D24 WFIKKN1 TRAF7 LOC105371047 RHBDF1 CEMP1 HBZ FAM234A PRR25 LINC00254 NOXO1 RPL3L PKD1 TPSG1 TBL3 TPSAB1 TSR3 PRSS29P JMJD8 MIR6511B1 HS3ST6 STUB1 EME2 CAPN15 MIR5587 ARHGDIG PDPK1 LOC100134368 UNKL RPL23AP5 E4F1 GNG13 TPSD1 AMDHD2 ATP6V0C LMF1 RPUSD1 MIR6768 DECR2 ECI1 TELO2 CHTF18 PTX4 IFT140 ABCA3 NARFL POLR3K WDR24 MIR662 METTL26 SNORA64 RPS2 CASKIN1 RNPS1 HBM SNHG19 KCTD5 CCDC78 MPG RNF151 MIR4516 C1QTNF8 MIR4717 LOC105371049 LINC00235 FBXL16 BRICD5 PRSS27 RAB40C MAPK8IP3 IGFALS SNRNP25 MRPS34 WDR90 MIR3180-5 NUBP2 MCRIP2 MIR3177 LOC729652 RAB26 PRR35 RGS11 UBE2I MIR3176 CLCN7 CCNF LOC105371045 LOC100287175 NDUFB10 MIR3178 SSTR5-AS1 NME3 CRAMP1 RHBDL1 HBA1 CCDC154 NME4 HBA2 SNORA78 C16orf91 WASIR2 DNASE1L2
nsv571101 Chr.16:1078406 - 1287716 on Build GRCh38 Gain PRSS29P SSTR5 TPSB2 C1QTNF8 TPSD1 SSTR5-AS1 TPSG1 CACNA1H TPSAB1
nsv471067 Chr.16:997728 - 1220162 on Build GRCh38 Gain SSTR5 C1QTNF8 SSTR5-AS1 CACNA1H
nsv471066 Chr.16:893361 - 1482836 on Build GRCh38 Loss UBE2I SSTR5 UNKL C1QTNF8 SOX8 CLCN7 LMF1-AS1 LOC105371045 TPSD1 SSTR5-AS1 TPSG1 CACNA1H BAIAP3 TPSAB1 TSR3 PRSS29P GNPTG TPSB2 CCDC154 LOC107984876 LMF1 C16orf91
dgv2691n100 Chr.16:1002943 - 1247707 on Build GRCh38 Gain SSTR5 TPSB2 C1QTNF8 SSTR5-AS1 TPSG1 CACNA1H TPSAB1
nsv428316 Chr.16:929650 - 1363252 on Build GRCh38 Gain+Loss UBE2I SSTR5 UNKL C1QTNF8 SOX8 LMF1-AS1 TPSD1 SSTR5-AS1 TPSG1 CACNA1H BAIAP3 TPSAB1 TSR3 PRSS29P GNPTG TPSB2 LMF1
nsv952899 Chr.16:1142501 - 1535899 on Build GRCh38 Deletion PTX4 IFT140 UBE2I LOC105371047 UNKL CLCN7 LOC105371045 TPSD1 TPSG1 CACNA1H BAIAP3 TPSAB1 TSR3 PRSS29P GNPTG TMEM204 TPSB2 CCDC154 C16orf91 TELO2
nsv1160327 Chr.16:1063695 - 1222472 on Build GRCh38 Deletion SSTR5 C1QTNF8 SSTR5-AS1 TPSG1 CACNA1H
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 TPSB2 C1QTNF8 TPSD1 TPSG1 CACNA1H TPSAB1

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