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

Chr.16:1161085 on build GRCh38
Cytoband
16p13.3
Assay ID Hs03932020_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 HBQ1 BRICD5 SSTR5 KCTD5 IGFALS LOC106660606 RHBDF1 MEIOB TSR3 RAB11FIP3 LOC100287175 PIGQ PRSS29P SLC9A3R2 WFIKKN1 JMJD8 HBM STUB1 IFT140 LOC105371184 MIR6511B1 TPSAB1 LOC105371049 CEMP1 SNHG9 LOC105371038 MCRIP2 RHBDL1 HN1L SPSB3 WASIR2 HAGH SOX8 LMF1-AS1 NARFL MRPS34 MIR940 METTL26 LUC7L FAHD1 LMF1 MIR3180-5 FBXL16 TPSB2 PDPK1 FAM173A UBE2I C16orf59 CLCN7 SNHG19 RPUSD1 MIR662 CRAMP1 MAPK8IP3 NPW PGP HBZ MIR5587 WDR90 WDR24 PTX4 SYNGR3 RAB40C MIR4516 TRAF7 HS3ST6 SSTR5-AS1 UNKL MIR3677 SNORA10 NME3 RAB26 PKD1 TBL3 LOC107987233 PRSS27 DECR2 NDUFB10 LOC107984876 TPSD1 CAPN15 C1QTNF8 TSC2 PDIA2 CACNA1H RNPS1 DNASE1L2 ABCA3 MIR3177 LOC101929280 NTN3 HBA1 MIR4717 RHOT2 GNPTG AXIN1 LOC100134368 RNF151 SNRNP25 PRR35 MLST8 GFER MIR3176 NPRL3 NTHL1 ZNF598 ECI1 MRPL28 LINC00235 ABCA17P POLR3K TMEM8A C16orf91 MSLN ERVK13-1 SNORA78 TPSG1 FAM234A RPL3L LOC105371046 CASKIN1 TELO2 LOC105371045 CCDC154 GNG13 E4F1 SNORD60 RGS11 SNORA64 LINC00254 NME4 MIR6767 LOC652276 MSRB1 ARHGDIG ATP6V0C NHLRC4 NUBP2 BAIAP3 RPS2 TMEM204 RPL23AP5 MIR6859-4 MPG CCNF PRR25 TBC1D24 MIR6768 EME2 MIR3178 CCDC78 DDX11L10 LOC729652 NOXO1 AMDHD2 HBA2 HAGHL LOC105371047 MIR1225 FLJ42627 METRN CHTF18
nsv428316 Chr.16:929650 - 1363252 on Build GRCh38 Gain+Loss LMF1 BAIAP3 GNPTG SSTR5-AS1 TPSAB1 SSTR5 TPSB2 UBE2I UNKL TPSG1 TSR3 SOX8 LMF1-AS1 TPSD1 C1QTNF8 PRSS29P CACNA1H
nsv1160327 Chr.16:1063695 - 1222472 on Build GRCh38 Deletion SSTR5-AS1 SSTR5 C1QTNF8 TPSG1 CACNA1H
esv3637605 Chr.16:1160548 - 1168281 on Build GRCh38 Loss CACNA1H
nsv571046 Chr.16:828324 - 1202441 on Build GRCh38 Gain LMF1 LOC107984876 SSTR5-AS1 SOX8 SSTR5 LMF1-AS1 C1QTNF8 CACNA1H
nsv571101 Chr.16:1078406 - 1287716 on Build GRCh38 Gain SSTR5-AS1 TPSAB1 SSTR5 TPSB2 TPSD1 C1QTNF8 PRSS29P TPSG1 CACNA1H
nsv471067 Chr.16:997728 - 1220162 on Build GRCh38 Gain SSTR5-AS1 SSTR5 C1QTNF8 CACNA1H
nsv471066 Chr.16:893361 - 1482836 on Build GRCh38 Loss LMF1 BAIAP3 C16orf91 GNPTG SSTR5-AS1 TPSAB1 SSTR5 TPSB2 UBE2I UNKL TPSG1 CLCN7 LOC107984876 TSR3 SOX8 LOC105371045 LMF1-AS1 CCDC154 TPSD1 C1QTNF8 PRSS29P CACNA1H
dgv2691n100 Chr.16:1002943 - 1247707 on Build GRCh38 Gain SSTR5-AS1 TPSAB1 SSTR5 TPSB2 C1QTNF8 TPSG1 CACNA1H
nsv952899 Chr.16:1142501 - 1535899 on Build GRCh38 Deletion BAIAP3 TMEM204 C16orf91 GNPTG TPSAB1 TPSB2 UBE2I UNKL TPSG1 CLCN7 TELO2 TSR3 LOC105371045 CCDC154 TPSD1 PRSS29P CACNA1H PTX4 IFT140 LOC105371047
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 TPSAB1 TPSB2 TPSD1 C1QTNF8 TPSG1 CACNA1H

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