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Gene Symbol:
CACNA1C
Entrez Gene ID
775
Gene Name:
calcium voltage-gated channel subunit alpha1 C
Gene Aliases
CACH2, CACN2, CACNL1A1, CCHL1A1, CaV1.2, LQT8, TS
Gene Chromosome Location
Chr.12: on Build GRCh38
UniGene
Hs.118262
Species:
Human
Primer Chromosome Location
Chr.12: 2448848-2449423 on Build GRCh38
Amplicon Length
576
Primer Sequences
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Ampliseq ID's
Primer ID Hs00429259_CE
Primer 5'-tail Option
Purification
Primer Pair /FWD/REV
Synthesis Scale 25 nmol
Availability Made To Order
Catalog #'s A15629,A15630
Price (USD) USD 16.46,USD 16.46

Genomic Map

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Assay Details

Gene Information


CACNA1C
Accession Protein COSMIC ID Mutation AA
RefSeq NM_000719.6 NP_000710.5 - - -
NM_001129827.1 NP_001123299.1 2202594 c.608T>C p.V203A
7202267 c.616G>A p.G206R
4040969 c.527T>A p.L176*
1660927 c.514G>C p.V172L
4500803 c.573C>T p.L191L
5374885 c.478G>A p.E160K
4977323 c.580G>A p.G194S
2202584 c.537C>T p.I179I
3739573 c.617+8T>A p.?
4040974 c.575G>A p.R192H
3753106 c.522G>A p.A174A
4780061 c.579C>T p.N193N
6552891 c.580G>T p.G194C
1476432 c.537C>A p.I179I
4550935 c.513G>C p.T171T
NM_001129829.1 NP_001123301.1 229212 c.486_487GG>AA p.V162>?
4780062 c.579C>T p.N193N
4550936 c.513G>C p.T171T
1476433 c.537C>A p.I179I
7202268 c.616G>A p.G206R
4040970 c.527T>A p.L176*
215522 c.580G>A p.G194S
4500804 c.573C>T p.L191L
2202585 c.537C>T p.I179I
5374886 c.478G>A p.E160K
6552892 c.580G>T p.G194C
1660928 c.514G>C p.V172L
3739574 c.617+8T>A p.?
3753107 c.522G>A p.A174A
4040975 c.575G>A p.R192H
2202595 c.608T>C p.V203A
NM_001129830.2 NP_001123302.2 - - -
NM_001129831.1 NP_001123303.1 - - -
NM_001129832.1 NP_001123304.1 - - -
NM_001129833.1 NP_001123305.1 229211 c.576_577GG>AA p.V192>?
4780064 c.669C>T p.N223N
4040972 c.617T>A p.L206*
2202597 c.698T>C p.V233A
7202266 c.706G>A p.G236R
1476435 c.627C>A p.I209I
6552894 c.670G>T p.G224C
3739576 c.707+8T>A p.?
4550938 c.603G>C p.T201T
3753109 c.612G>A p.A204A
159688 c.589C>G p.L197V
215521 c.670G>A p.G224S
4040977 c.665G>A p.R222H
2202587 c.627C>T p.I209I
4500806 c.663C>T p.L221L
120846 c.691A>T p.I231L
5374888 c.568G>A p.E190K
1660930 c.604G>C p.V202L
NM_001129834.1 NP_001123306.1 - - -
NM_001129835.1 NP_001123307.1 - - -
NM_001129836.1 NP_001123308.1 - - -
NM_001129837.1 NP_001123309.1 - - -
NM_001129838.1 NP_001123310.1 - - -
NM_001129839.1 NP_001123311.1 - - -
NM_001129840.1 NP_001123312.1 - - -
NM_001129841.1 NP_001123313.1 - - -
NM_001129842.1 NP_001123314.1 - - -
NM_001129843.1 NP_001123315.1 - - -
NM_001129844.1 NP_001123316.1 - - -
NM_001129846.1 NP_001123318.1 - - -
NM_001167623.1 NP_001161095.1 - - -
NM_001167624.2 NP_001161096.2 5374887 c.478G>A p.E160K
1660929 c.514G>C p.V172L
4780063 c.579C>T p.N193N
4550937 c.513G>C p.T171T
2202586 c.537C>T p.I179I
4040976 c.575G>A p.R192H
3739575 c.617+8T>A p.?
4500805 c.573C>T p.L191L
4977324 c.580G>A p.G194S
1476434 c.537C>A p.I179I
6552893 c.580G>T p.G194C
2202596 c.608T>C p.V203A
4040971 c.527T>A p.L176*
7202269 c.616G>A p.G206R
3753108 c.522G>A p.A174A
NM_001167625.1 NP_001161097.1 4550939 c.513G>C p.T171T
2202588 c.537C>T p.I179I
3739577 c.617+8T>A p.?
5374889 c.478G>A p.E160K
7202270 c.616G>A p.G206R
4040973 c.527T>A p.L176*
6552895 c.580G>T p.G194C
4977325 c.580G>A p.G194S
4780065 c.579C>T p.N193N
5224607 c.537C>A p.I179I
2202598 c.608T>C p.V203A
3753110 c.522G>A p.A174A
1660931 c.514G>C p.V172L
4040978 c.575G>A p.R192H
4500807 c.573C>T p.L191L
NM_199460.3 NP_955630.3 - - -
XM_006719017.2 XP_006719080.1 - - -
XM_011521020.2 XP_011519322.1 - - -
XM_011521023.2 XP_011519325.1 - - -
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 - - -
GenBank AB209016.1 BAD92253.1 - - -
AF465484.1 AAM70049.1 - - -
AJ224873.1 CAA12174.1 - - -
AY830711.1 AAX37354.1 - - -
AY830712.1 AAX37355.1 - - -
AY830713.1 AAX37356.1 - - -
BC146846.1 - - -
ENST00000402845.0 - - -
L29529.1 AAA51899.1 - - -
L29534.1 AAA51900.1 - - -
L29536.1 AAA51901.1 - - -
Z34809.1 CAA84340.1 - - -
Z34810.1 CAA84341.1 - - -
Z34811.1 CAA84342.1 - - -
Z34812.1 CAA84343.1 - - -
Z34813.1 CAA84344.1 - - -
Z34814.1 CAA84345.1 - - -
Z34815.1 CAA84346.1 - - -
Z34816.1 CAA84347.1 - - -
Z34817.1 CAA84348.1 - - -
Z34818.1 CAA84349.1 - - -
Z34819.1 CAA84350.1 - - -
Z34820.1 CAA84351.1 - - -
Z34821.1 CAA84352.1 - - -
Z34822.1 CAA84353.1 - - -
Z74996.1 CAA99284.1 - - -


Phenotype

MIM: 114205

Literature Links:

CACNA1C PubMed Links

SNP ID

rs111778211 rs112470719 rs969789637 rs886049202 rs538997856 rs1036463390 rs372770722 rs566888241 rs786205743 rs892400071 rs368845306 rs763452803 rs748936517 rs960804354 rs949876446 rs777210376 rs369673473 rs979255353 rs563350534 rs971155109 rs913717979 rs749405526 rs566358985 rs982292938 rs386759537 rs995137039 rs550267364 rs991165917 rs897631336 rs757018778 rs4765682 rs928040016 rs548482522 rs766754214 rs879015400 rs750093371 rs530130732 rs4765933 rs767270982 rs994677032 rs557373646 rs913774837 rs75588355 rs1544515 rs890476765 rs769218160 rs1544516 rs786205769 rs958578529 rs977596664 rs1050690866 rs371874539 rs991614019 rs1027583006 rs774539191 rs74823149 rs759633434 rs199586997 rs552535781 rs771078944 rs935515055 rs78824737 rs1024424233 rs747320984 rs1544514 rs962347616 rs555783569 rs377571606 rs759335182 rs777213515 rs778711543 rs774096274 rs750364088 rs773206108 rs897983159 rs756929253 rs571558332 rs1027530636 rs747409082 rs774798005 rs921152071 rs779735913 rs769915094 rs753418562 rs748658616 rs192177703 rs561224137 rs756042537 rs774814190 rs996648087 rs946683884 rs1050437536

Submission count

NA

Allele Nomenclature



Chromosome Location

Chr.12: 2449133-2449133 on Build GRCh38

Allele Frequency



1000Genome Applied Biosystems® HapMap
Global - Not Available Caucasian - Not Available CEPH (CEU) - Not Available
EAS - Not Available African American - Not Available YRI (Yoruba) - Not Available
SAS - Not Available Chinese - Not Available CHB (Han Chinese) - Not Available
AFR - Not Available Japanese - Not Available JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available


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More Information


Set Membership:

 Between 400-700 bp

Panther Classification:

Molecular Function -

voltage-gated ion channel

Gene Ontology Categories:

Function(s) Process(es)

Format:

Each primer will be delivered in a single tube, dried-down

Quick Reference Guide

Primer Designer™ Tool Quick Reference




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