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

Chr.16:1167300 on build GRCh38
Cytoband
16p13.3
Assay ID Hs03931581_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 ECI1 FAM173A LOC107987233 LOC105371045 ERVK13-1 PDIA2 TPSG1 MIR4717 NUBP2 HN1L HAGHL RPS2 SNORD60 CEMP1 RPL23AP5 AXIN1 LOC105371046 PGP GNPTG CCDC78 NTN3 MAPK8IP3 IFT140 CAPN15 CLCN7 NME4 RHBDL1 ABCA3 PKD1 C1QTNF8 MIR6859-4 MRPL28 GFER PIGQ MIR5587 POLR3K HBA1 MIR6767 LMF1 ATP6V0C HBM MIR3177 RAB40C AMDHD2 HAGH HBQ1 SNHG19 MIR662 LOC100134368 MIR6768 TRAF7 EME2 SSTR5-AS1 CASKIN1 SYNGR3 RAB26 FAHD1 RGS11 LOC105371047 TPSD1 FAM234A TBC1D24 RNF151 NHLRC4 UBE2I LOC107984876 NDUFB10 WASIR2 ABCA17P MIR3180-5 MIR3677 METTL26 SSTR5 LOC100287175 MIR1225 TPSAB1 MIR6511B1 MEIOB LMF1-AS1 NOXO1 LINC00235 RPL3L MPG LOC652276 PRSS27 RHBDF1 TMEM204 KCTD5 LOC729652 METRN CHTF18 FBXL16 DECR2 IGFALS FLJ42627 WDR24 NARFL CCDC154 NME3 PDPK1 LUC7L LOC106660606 NPW NPRL3 SNRNP25 WDR90 SLC9A3R2 PTX4 DDX11L10 SNORA78 SNHG9 HBA2 LOC105371049 NTHL1 TPSB2 MIR940 TSC2 E4F1 LOC101929280 MIR4516 RPUSD1 PRR25 MLST8 HBZ TELO2 CACNA1H MIR3178 CRAMP1 BAIAP3 MCRIP2 SNORA10 LINC00254 MSLN RAB11FIP3 MRPS34 CCNF MIR3176 JMJD8 TBL3 DNASE1L2 RHOT2 UNKL LOC105371038 GNG13 LOC105371184 RNPS1 STUB1 SOX8 ZNF598 PRR35 ARHGDIG PRSS29P BRICD5 TSR3 C16orf59 TMEM8A C16orf91 SPSB3 MSRB1 WFIKKN1 HS3ST6 SNORA64
nsv428316 Chr.16:929650 - 1363252 on Build GRCh38 Gain+Loss LMF1-AS1 UNKL SOX8 TPSG1 TPSD1 CACNA1H C1QTNF8 BAIAP3 PRSS29P UBE2I TSR3 LMF1 SSTR5-AS1 SSTR5 TPSB2 GNPTG TPSAB1
nsv1051302 Chr.16:1162523 - 1299208 on Build GRCh38 Gain TPSB2 TPSG1 TPSD1 CACNA1H TPSAB1 PRSS29P
nsv1160327 Chr.16:1063695 - 1222472 on Build GRCh38 Deletion SSTR5-AS1 SSTR5 TPSG1 CACNA1H C1QTNF8
esv3637605 Chr.16:1160548 - 1168281 on Build GRCh38 Loss CACNA1H
nsv571046 Chr.16:828324 - 1202441 on Build GRCh38 Gain LOC107984876 LMF1-AS1 LMF1 SSTR5-AS1 SSTR5 SOX8 CACNA1H C1QTNF8
nsv571101 Chr.16:1078406 - 1287716 on Build GRCh38 Gain SSTR5-AS1 SSTR5 TPSB2 TPSG1 TPSD1 CACNA1H C1QTNF8 TPSAB1 PRSS29P
nsv471067 Chr.16:997728 - 1220162 on Build GRCh38 Gain SSTR5-AS1 SSTR5 CACNA1H C1QTNF8
nsv471066 Chr.16:893361 - 1482836 on Build GRCh38 Loss LMF1-AS1 UNKL LOC105371045 SOX8 TPSG1 TPSD1 CACNA1H C1QTNF8 BAIAP3 PRSS29P UBE2I LOC107984876 TSR3 LMF1 CCDC154 SSTR5-AS1 C16orf91 SSTR5 TPSB2 GNPTG TPSAB1 CLCN7
dgv2691n100 Chr.16:1002943 - 1247707 on Build GRCh38 Gain SSTR5-AS1 SSTR5 TPSB2 TPSG1 CACNA1H C1QTNF8 TPSAB1
nsv952899 Chr.16:1142501 - 1535899 on Build GRCh38 Deletion UNKL LOC105371045 LOC105371047 TMEM204 TPSG1 TPSD1 TELO2 CACNA1H BAIAP3 PTX4 PRSS29P UBE2I TSR3 CCDC154 C16orf91 TPSB2 GNPTG IFT140 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 TPSG1 TPSD1 CACNA1H C1QTNF8 TPSAB1

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More Information


Additional Information:

For this assay, SNP(s) [rs112977180,rs146830998] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Set Membership:

 Intragenic Intronic Non-exonic DGV Variation

Panther Classification:

Molecular Function -

voltage-gated ion channel

Gene Ontology Categories:

Function(s) Process(es)


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