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

Chr.16:1162470 on build GRCh38
Cytoband
16p13.3
Assay ID Hs03923933_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 METRN MIR3177 LOC100287175 RPL23AP5 CCDC154 RPUSD1 MIR1225 MSLN CCDC78 TBL3 NME4 CCNF TRAF7 PIGQ FBXL16 MIR6859-4 IFT140 PRR25 MLST8 MIR4717 GNPTG LUC7L MIR6511B1 LINC00235 METTL26 WDR24 AXIN1 C1QTNF8 ATP6V0C ARHGDIG MIR4516 MIR662 FAHD1 LMF1 LOC105371049 DNASE1L2 MIR3180-5 BRICD5 BAIAP3 WDR90 DECR2 TSC2 FAM234A PRSS29P GFER ABCA3 SNORD60 LOC101929280 RHBDF1 CHTF18 RHBDL1 TBC1D24 NOXO1 C16orf91 PGP EME2 TMEM204 AMDHD2 PRSS27 HS3ST6 HBQ1 MRPS34 RGS11 RAB11FIP3 CRAMP1 SNORA10 TPSG1 STUB1 RPL3L NME3 HN1L C16orf59 NTN3 DDX11L10 NUBP2 CEMP1 SNORA78 GNG13 ERVK13-1 SOX8 HAGH MIR3178 FLJ42627 NDUFB10 NTHL1 ABCA17P SSTR5-AS1 RHOT2 MRPL28 LOC729652 NARFL LOC106660606 LOC105371046 UNKL RAB40C FAM173A RNPS1 CACNA1H MPG UBE2I PDPK1 LOC105371047 TPSB2 PRR35 MIR3677 HBM NPW MEIOB MSRB1 SLC9A3R2 RNF151 MCRIP2 MAPK8IP3 SYNGR3 TPSAB1 SNHG19 CAPN15 SNHG9 SPSB3 LMF1-AS1 HBZ JMJD8 LOC105371045 MIR5587 LOC100134368 LOC652276 PTX4 LOC107987233 POLR3K LOC107984876 E4F1 SNORA64 TELO2 SSTR5 ZNF598 IGFALS TMEM8A MIR940 LOC105371184 MIR6767 ECI1 RPS2 TSR3 HAGHL MIR3176 LOC105371038 RAB26 CASKIN1 LINC00254 NPRL3 WASIR2 HBA1 KCTD5 TPSD1 PKD1 CLCN7 SNRNP25 MIR6768 PDIA2 NHLRC4 WFIKKN1 HBA2
nsv428316 Chr.16:929650 - 1363252 on Build GRCh38 Gain+Loss SSTR5-AS1 TPSG1 C1QTNF8 TPSAB1 SSTR5 LMF1 LMF1-AS1 UNKL CACNA1H BAIAP3 TPSD1 UBE2I TPSB2 SOX8 GNPTG TSR3 PRSS29P
nsv1160327 Chr.16:1063695 - 1222472 on Build GRCh38 Deletion CACNA1H SSTR5-AS1 TPSG1 C1QTNF8 SSTR5
esv3637605 Chr.16:1160548 - 1168281 on Build GRCh38 Loss CACNA1H
nsv571046 Chr.16:828324 - 1202441 on Build GRCh38 Gain LMF1-AS1 CACNA1H SSTR5-AS1 C1QTNF8 SOX8 LOC107984876 SSTR5 LMF1
nsv571101 Chr.16:1078406 - 1287716 on Build GRCh38 Gain CACNA1H SSTR5-AS1 TPSG1 TPSD1 C1QTNF8 TPSB2 TPSAB1 SSTR5 PRSS29P
nsv471067 Chr.16:997728 - 1220162 on Build GRCh38 Gain CACNA1H SSTR5-AS1 C1QTNF8 SSTR5
nsv471066 Chr.16:893361 - 1482836 on Build GRCh38 Loss SSTR5-AS1 TPSG1 C1QTNF8 TPSAB1 LOC107984876 CCDC154 SSTR5 C16orf91 LMF1 LMF1-AS1 UNKL CACNA1H LOC105371045 BAIAP3 TPSD1 UBE2I CLCN7 TPSB2 SOX8 GNPTG TSR3 PRSS29P
dgv2691n100 Chr.16:1002943 - 1247707 on Build GRCh38 Gain CACNA1H SSTR5-AS1 TPSG1 C1QTNF8 TPSB2 TPSAB1 SSTR5
nsv952899 Chr.16:1142501 - 1535899 on Build GRCh38 Deletion PTX4 TPSG1 TPSAB1 CCDC154 TELO2 C16orf91 UNKL CACNA1H LOC105371045 TMEM204 BAIAP3 TPSD1 IFT140 UBE2I CLCN7 LOC105371047 TPSB2 GNPTG TSR3 PRSS29P
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 CACNA1H TPSG1 TPSD1 C1QTNF8 TPSB2 TPSAB1

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