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

Chr.16:1167673 on build GRCh38
Cytoband
16p13.3
Assay ID Hs03952689_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
esv2422427 Chr.16:10001 - 2723164 on Build GRCh38 Duplication BAIAP3 PKD1 FAM234A TPSB2 MIR4516 PRSS29P TBL3 MIR3180-5 NARFL CAPN15 ECI1 MIR940 CCDC78 LUC7L CCNF CEMP1 RAB11FIP3 SSTR5-AS1 UNKL WFIKKN1 NME4 TMEM8A HAGH NPRL3 SPSB3 C16orf91 LOC105371184 NHLRC4 ABCA3 LOC105371045 MSLN ERVK13-1 RPS2 HS3ST6 MSRB1 DDX11L10 RNF151 LOC105371038 JMJD8 PIGQ PRR25 IGFALS FLJ42627 PRR35 NPW MIR1225 WASIR2 CHTF18 CASKIN1 SNORA64 RAB26 SLC9A3R2 STUB1 HBM LOC100287175 FBXL16 MEIOB LINC00235 LOC105371047 MIR3178 SNRNP25 ABCA17P NME3 TBC1D24 CLCN7 SNORA10 MRPL28 AMDHD2 HBZ LOC100134368 SSTR5 TPSG1 PDIA2 BRICD5 RPL3L METTL26 LMF1-AS1 FAM173A LOC105371046 HAGHL MPG PTX4 RHBDF1 ATP6V0C WDR90 HN1L LOC729652 CRAMP1 RNPS1 KCTD5 LOC101929280 NOXO1 MLST8 POLR3K RGS11 C1QTNF8 TPSAB1 CCDC154 NTN3 MIR4717 LOC106660606 MRPS34 RHBDL1 GNPTG TELO2 PRSS27 ARHGDIG NUBP2 LOC107987233 WDR24 MIR6859-4 RAB40C NDUFB10 GFER MIR662 RHOT2 HBQ1 CACNA1H C16orf59 NTHL1 HBA1 HBA2 ZNF598 UBE2I LOC652276 SOX8 RPL23AP5 LOC105371049 SNHG9 MIR6768 MCRIP2 LOC107984876 MIR3177 GNG13 SNORD60 PGP E4F1 SNHG19 SYNGR3 MIR6767 LINC00254 PDPK1 MIR3677 AXIN1 TMEM204 LMF1 MIR6511B1 DECR2 FAHD1 MIR3176 MAPK8IP3 TSC2 TRAF7 METRN IFT140 RPUSD1 SNORA78 EME2 DNASE1L2 TSR3 TPSD1 MIR5587
nsv428316 Chr.16:929650 - 1363252 on Build GRCh38 Gain+Loss BAIAP3 TPSB2 CACNA1H SSTR5 LMF1 TPSG1 PRSS29P UBE2I GNPTG SOX8 LMF1-AS1 TSR3 SSTR5-AS1 UNKL TPSD1 C1QTNF8 TPSAB1
nsv1051302 Chr.16:1162523 - 1299208 on Build GRCh38 Gain TPSB2 CACNA1H TPSG1 PRSS29P TPSD1 TPSAB1
nsv1160327 Chr.16:1063695 - 1222472 on Build GRCh38 Deletion CACNA1H SSTR5 TPSG1 SSTR5-AS1 C1QTNF8
esv3637605 Chr.16:1160548 - 1168281 on Build GRCh38 Loss CACNA1H
nsv571046 Chr.16:828324 - 1202441 on Build GRCh38 Gain LMF1-AS1 CACNA1H LOC107984876 SSTR5 LMF1 SSTR5-AS1 C1QTNF8 SOX8
nsv571101 Chr.16:1078406 - 1287716 on Build GRCh38 Gain TPSB2 CACNA1H SSTR5 TPSG1 PRSS29P SSTR5-AS1 TPSD1 C1QTNF8 TPSAB1
nsv471067 Chr.16:997728 - 1220162 on Build GRCh38 Gain CACNA1H SSTR5 SSTR5-AS1 C1QTNF8
nsv471066 Chr.16:893361 - 1482836 on Build GRCh38 Loss BAIAP3 CCDC154 TPSB2 C16orf91 CACNA1H SSTR5 LMF1 TPSG1 PRSS29P LOC105371045 UBE2I GNPTG SOX8 LMF1-AS1 LOC107984876 TSR3 SSTR5-AS1 UNKL TPSD1 C1QTNF8 TPSAB1 CLCN7
dgv2691n100 Chr.16:1002943 - 1247707 on Build GRCh38 Gain TPSB2 CACNA1H SSTR5 TPSG1 SSTR5-AS1 C1QTNF8 TPSAB1
nsv952899 Chr.16:1142501 - 1535899 on Build GRCh38 Deletion BAIAP3 CCDC154 TPSB2 C16orf91 CACNA1H TMEM204 TPSG1 PRSS29P LOC105371045 UBE2I GNPTG IFT140 TELO2 TSR3 LOC105371047 UNKL TPSD1 PTX4 TPSAB1 CLCN7
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 CACNA1H TPSG1 TPSD1 C1QTNF8 TPSAB1

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