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See other CACNA1C CNV Assays ›
Gene Symbol
CACNA1C
Assay Reference Genome
Location

Chr.12:2003654 on build GRCh38
Cytoband
12p13.33
Assay ID Hs06952917_cn
Size
Availability Made To Order
Catalog # 4400291
Price
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  • Genomic Map
  • Assay Details
  • More Information

Genomic Map

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Assay Details

Target Gene Details

Entrez Gene ID:

775

Gene Name:

calcium voltage-gated channel subunit alpha1 C

Gene Aliases:

CACH2, CACN2, CACNL1A1, CCHL1A1, CaV1.2, LQT8, TS

Location:

Chr.12:1969677-2697949 on Build GRCh38

Assay Gene Location:

Within Intron 1
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
CACNA1C XM_006719017.2 XP_006719080.1
XM_011521020.2 XP_011519322.1
XM_017019926.1 XP_016875415.1
XM_017019927.1 XP_016875416.1
XM_017019928.1 XP_016875417.1
XM_017019929.1 XP_016875418.1
XM_017019930.1 XP_016875419.1
XM_017019931.1 XP_016875420.1
XM_017019932.1 XP_016875421.1
XM_017019933.1 XP_016875422.1
XM_017019934.1 XP_016875423.1
XM_017019935.1 XP_016875424.1
XM_017019936.1 XP_016875425.1
XM_017019937.1 XP_016875426.1
XM_017019938.1 XP_016875427.1
XM_017019939.1 XP_016875428.1
XM_017019940.1 XP_016875429.1
XM_017019941.1 XP_016875430.1
XM_017019942.1 XP_016875431.1
XM_017019943.1 XP_016875432.1
XM_017019944.1 XP_016875433.1
XM_017019945.1 XP_016875434.1
XM_017019946.1 XP_016875435.1
XM_017019947.1 XP_016875436.1
XM_017019948.1 XP_016875437.1
XM_017019949.1 XP_016875438.1
XM_017019950.1 XP_016875439.1
XM_017019951.1 XP_016875440.1
XM_017019952.1 XP_016875441.1
XM_017019953.1 XP_016875442.1
XM_017019954.1 XP_016875443.1
XM_017019955.1 XP_016875444.1

Target Gene Details

Entrez Gene ID:

196513

Gene Name:

decapping mRNA 1B

Gene Aliases:

DCP1

Location:

Chr.12:1941591-2004535 on Build GRCh38

Assay Gene Location:

Within Intron 1
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
DCP1B NM_001319292.1 NP_001306221.1
NM_152640.4 NP_689853.3
NR_135060.1
XM_011520927.2 XP_011519229.1
AK056200.1 BAB71118.1
AK299203.1
AK301109.1
AK310475.1
AY146652.1 AAN62764.1
BC043437.2 AAH43437.1
BM544996.1
DC425587.1

Target Copy Number Variation Details

DGV Version:

Release date: 2016-05-15, GRCh GRCh38
Target
Variation
Location CNV
Subtype
Genes
nsv521838 Chr.12:1951414 - 2190514 on Build GRCh38 Gain DCP1B CACNA1C-IT2 CACNA1C
nsv1042378 Chr.12:1968731 - 2020607 on Build GRCh38 Gain DCP1B CACNA1C
nsv574 Chr.12:2002711 - 2035810 on Build GRCh38 Insertion DCP1B CACNA1C
nsv1040370 Chr.12:1912229 - 2561851 on Build GRCh38 Gain CACNA1C-IT3 CACNA1C-AS4 CACNA2D4 LINC00940 DCP1B CACNA1C-IT2 CACNA1C
nsv525455 Chr.12:1956204 - 2025860 on Build GRCh38 Loss DCP1B CACNA1C

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More Information


Set Membership:

Intragenic Intronic Non-exonic DGV Variation

Panther Classification:

Molecular Function -

voltage-gated ion channel mRNA capping factor

Gene Ontology Categories:

Function(s) Process(es)

immune system development
positive regulation of cytosolic calcium ion concentration
heart development
regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion
embryonic forelimb morphogenesis
calcium-mediated signaling using extracellular calcium source
camera-type eye development
regulation of insulin secretion
calcium ion transport into cytosol
cardiac conduction
calcium ion transmembrane transport via high voltage-gated calcium channel
calcium ion transmembrane transport
cardiac muscle cell action potential involved in contraction
membrane depolarization during cardiac muscle cell action potential
membrane depolarization during AV node cell action potential
cell communication by electrical coupling involved in cardiac conduction
regulation of heart rate by cardiac conduction
regulation of ventricular cardiac muscle cell action potential
membrane depolarization during atrial cardiac muscle cell action potential
nuclear-transcribed mRNA catabolic process, nonsense-mediated decay
deadenylation-dependent decapping of nuclear-transcribed mRNA
deadenylation-independent decapping of nuclear-transcribed mRNA
positive regulation of catalytic activity
exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay
voltage-gated calcium channel activity
protein binding
calmodulin binding
high voltage-gated calcium channel activity
metal ion binding
alpha-actinin binding
voltage-gated calcium channel activity involved in cardiac muscle cell action potential
voltage-gated calcium channel activity involved in AV node cell action potential
mRNA binding
enzyme activator activity
hydrolase activity
enzyme regulator activity

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