Product Details

Primer Sequences

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Primer Chromosome Location

Chr.19: 13207641-13208131 on Build GRCh38 View in UCSC browser

Format

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

Quick Reference Guide

Primer Designer^™ Tool Quick Reference

Ampliseq ID's

Gene Details

Gene Symbol

CACNA1A

Entrez Gene ID

773

Gene Name

calcium voltage-gated channel subunit alpha1 A

Gene Aliases

APCA, BI, CACNL1A4, CAV2.1, EA2, FHM, HPCA, MHP, MHP1, SCA6

UniGene

Hs.501632

Gene Chromosome Location

Chr.19: 13206442-13506460 on Build GRCh38

Transcripts

NM_000068.3 NM_001127221.1 NM_001127222.1 NM_001174080.1 NM_023035.2

Cosmic Detail

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Cosmic ID	Mutation	AA	Transcript Location
5446621	c.6903_6905delGCA	p.Q2314delQ	Chr.19: 13207896-13207898 on Build GRCh38
4407528	c.6874A>C	p.T2292P	Chr.19: 13207960-13207960 on Build GRCh38
6458715	c.6975_6976insCAG	p.Q2325_A2326insQ	Chr.19: 13207858-13207859 on Build GRCh38
5701054	c.7040_7041insG	p.H2348fs*144	Chr.19: 13207760-13207761 on Build GRCh38
991591	c.6837G>A	p.P2279P	Chr.19: 13207997-13207997 on Build GRCh38
5619775	c.6973_6975delCAG	p.Q2325delQ	Chr.19: 13207859-13207861 on Build GRCh38
1611611	c.6988T>C	p.Y2330H	Chr.19: 13207813-13207813 on Build GRCh38
5743963	c.6883C>G	p.P2295A	Chr.19: 13207951-13207951 on Build GRCh38
5486904	c.7188C>T	p.H2396H	Chr.19: 13207646-13207646 on Build GRCh38
5620407	c.6950A>T	p.Q2317L	Chr.19: 13207884-13207884 on Build GRCh38
1611617	c.6937C>G	p.Q2313E	Chr.19: 13207864-13207864 on Build GRCh38
5883036	c.6940C>G	p.Q2314E	Chr.19: 13207861-13207861 on Build GRCh38
6367661	c.6881G>C	p.R2294P	Chr.19: 13207953-13207953 on Build GRCh38
1611613	c.6971A>C	p.Q2324P	Chr.19: 13207863-13207863 on Build GRCh38
4985299	c.6941A>C	p.Q2314P	Chr.19: 13207893-13207893 on Build GRCh38
4987603	c.6959A>C	p.Q2320P	Chr.19: 13207875-13207875 on Build GRCh38
5743964	c.6850C>G	p.P2284A	Chr.19: 13207951-13207951 on Build GRCh38
5486905	c.7155C>T	p.H2385H	Chr.19: 13207646-13207646 on Build GRCh38
5673141	c.6939G>C	p.Q2313H	Chr.19: 13207895-13207895 on Build GRCh38
6380266	c.6935C>A	p.P2312Q	Chr.19: 13207899-13207899 on Build GRCh38
4808713	c.7062G>A	p.P2354P	Chr.19: 13207772-13207772 on Build GRCh38
5619776	c.6940_6942delCAG	p.Q2314delQ	Chr.19: 13207859-13207861 on Build GRCh38
991592	c.6804G>A	p.P2268P	Chr.19: 13207997-13207997 on Build GRCh38
4131235	c.7025C>T	p.P2342L	Chr.19: 13207809-13207809 on Build GRCh38
5620408	c.6917A>T	p.Q2306L	Chr.19: 13207884-13207884 on Build GRCh38
6361437	c.6830A>C	p.Q2277P	Chr.19: 13207971-13207971 on Build GRCh38
5446256	c.6935_6936insGCAGCA	p.Q2325_A2326insQQ	Chr.19: 13207898-13207899 on Build GRCh38
4987607	c.6925C>G	p.Q2309E	Chr.19: 13207876-13207876 on Build GRCh38
6377304	c.6832A>C	p.T2278P	Chr.19: 13207969-13207969 on Build GRCh38
5673142	c.6906G>C	p.Q2302H	Chr.19: 13207895-13207895 on Build GRCh38
4131236	c.6992C>T	p.P2331L	Chr.19: 13207809-13207809 on Build GRCh38
5017207	c.6808C>T	p.R2270W	Chr.19: 13207993-13207993 on Build GRCh38
4615613	c.6847delC	p.R2283fs*9	Chr.19: 13207954-13207954 on Build GRCh38
4808714	c.7029G>A	p.P2343P	Chr.19: 13207772-13207772 on Build GRCh38
128613	c.7079_7083delTCCCA	p.V2360fs*130	Chr.19: 13207718-13207722 on Build GRCh38
5446257	c.6902_6903insGCAGCA	p.Q2314_A2315insQQ	Chr.19: 13207898-13207899 on Build GRCh38
1611614	c.6938A>C	p.Q2313P	Chr.19: 13207863-13207863 on Build GRCh38
5620404	c.6956A>T	p.Q2319L	Chr.19: 13207878-13207878 on Build GRCh38
6458716	c.6942_6943insCAG	p.Q2314_A2315insQ	Chr.19: 13207858-13207859 on Build GRCh38
6361436	c.6863A>C	p.Q2288P	Chr.19: 13207971-13207971 on Build GRCh38
1611610	c.7021T>C	p.Y2341H	Chr.19: 13207813-13207813 on Build GRCh38
4987606	c.6958C>G	p.Q2320E	Chr.19: 13207876-13207876 on Build GRCh38
5772747	c.7078A>T	p.S2360C	Chr.19: 13207756-13207756 on Build GRCh38
4615612	c.6880delC	p.R2294fs*9	Chr.19: 13207954-13207954 on Build GRCh38
1611616	c.6970C>G	p.Q2324E	Chr.19: 13207864-13207864 on Build GRCh38
4407529	c.6841A>C	p.T2281P	Chr.19: 13207960-13207960 on Build GRCh38
4131238	c.7024C>G	p.P2342A	Chr.19: 13207810-13207810 on Build GRCh38
6377303	c.6865A>C	p.T2289P	Chr.19: 13207969-13207969 on Build GRCh38
5989276	c.6804C>A	p.S2268R	Chr.19: 13208030-13208030 on Build GRCh38
5620405	c.6923A>T	p.Q2308L	Chr.19: 13207878-13207878 on Build GRCh38
5017206	c.6841C>T	p.R2281W	Chr.19: 13207993-13207993 on Build GRCh38
4985300	c.6908A>C	p.Q2303P	Chr.19: 13207893-13207893 on Build GRCh38
4987604	c.6926A>C	p.Q2309P	Chr.19: 13207875-13207875 on Build GRCh38
6367662	c.6848G>C	p.R2283P	Chr.19: 13207953-13207953 on Build GRCh38
5445971	c.6936_6941delGCAGCA	p.Q2324_Q2325delQQ	Chr.19: 13207893-13207898 on Build GRCh38
5772748	c.7045A>T	p.S2349C	Chr.19: 13207756-13207756 on Build GRCh38
5446620	c.6936_6938delGCA	p.Q2325delQ	Chr.19: 13207896-13207898 on Build GRCh38
5989277	c.6771C>A	p.S2257R	Chr.19: 13208030-13208030 on Build GRCh38
6380267	c.6902C>A	p.P2301Q	Chr.19: 13207899-13207899 on Build GRCh38
5701053	c.7073_7074insG	p.H2359fs*144	Chr.19: 13207760-13207761 on Build GRCh38
4131239	c.6991C>G	p.P2331A	Chr.19: 13207810-13207810 on Build GRCh38
5445972	c.6903_6908delGCAGCA	p.Q2313_Q2314delQQ	Chr.19: 13207893-13207898 on Build GRCh38
5883035	c.6973C>G	p.Q2325E	Chr.19: 13207861-13207861 on Build GRCh38

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SNP Detail

SNP ID	Chromosome Location
rs767307901	Chr.19: 13208079-13208079 on Build GRCh38
rs748579395	Chr.19: 13207839-13207839 on Build GRCh38
rs745912967	Chr.19: 13207747-13207747 on Build GRCh38
rs879255419	Chr.19: 13207869-13207870 on Build GRCh38
rs1002068942	Chr.19: 13207990-13207990 on Build GRCh38
rs147221323	Chr.19: 13207997-13207997 on Build GRCh38
rs377709995	Chr.19: 13208024-13208024 on Build GRCh38
rs1050540062	Chr.19: 13207795-13207795 on Build GRCh38
rs772427988	Chr.19: 13207856-13207856 on Build GRCh38
rs757167417	Chr.19: 13208059-13208059 on Build GRCh38
rs988470003	Chr.19: 13208071-13208071 on Build GRCh38
rs932173199	Chr.19: 13207784-13207784 on Build GRCh38
rs16055	Chr.19: 13207745-13207745 on Build GRCh38
rs756238847	Chr.19: 13207766-13207766 on Build GRCh38
rs774686258	Chr.19: 13207824-13207824 on Build GRCh38
rs879255546	Chr.19: 13207873-13207874 on Build GRCh38
rs773822089	Chr.19: 13207875-13207875 on Build GRCh38
rs867031513	Chr.19: 13207960-13207960 on Build GRCh38
rs1006331824	Chr.19: 13207833-13207833 on Build GRCh38
rs751451365	Chr.19: 13207863-13207864 on Build GRCh38
rs61165940	Chr.19: 13207692-13207692 on Build GRCh38
rs757251710	Chr.19: 13207731-13207731 on Build GRCh38
rs753460234	Chr.19: 13207858-13207859 on Build GRCh38
rs1015137079	Chr.19: 13207894-13207899 on Build GRCh38
rs397514035	Chr.19: 13207895-13207897 on Build GRCh38
rs758470236	Chr.19: 13207861-13207861 on Build GRCh38
rs927892127	Chr.19: 13207661-13207661 on Build GRCh38
rs780098532	Chr.19: 13207767-13207767 on Build GRCh38
rs758230368	Chr.19: 13207678-13207678 on Build GRCh38
rs987861675	Chr.19: 13207669-13207669 on Build GRCh38
rs750404163	Chr.19: 13208081-13208081 on Build GRCh38
rs751364653	Chr.19: 13208052-13208052 on Build GRCh38
rs994820572	Chr.19: 13207899-13207899 on Build GRCh38
rs977084641	Chr.19: 13207796-13207796 on Build GRCh38
rs1027760192	Chr.19: 13207946-13207946 on Build GRCh38
rs752539801	Chr.19: 13207859-13207867 on Build GRCh38
rs763992341	Chr.19: 13207690-13207690 on Build GRCh38
rs777870362	Chr.19: 13207862-13207863 on Build GRCh38
rs752420255	Chr.19: 13207662-13207662 on Build GRCh38
rs769147002	Chr.19: 13207855-13207858 on Build GRCh38
rs899566544	Chr.19: 13207743-13207743 on Build GRCh38
rs764837562	Chr.19: 13207954-13207954 on Build GRCh38
rs746127481	Chr.19: 13208081-13208082 on Build GRCh38
rs1015140281	Chr.19: 13207842-13207842 on Build GRCh38
rs757312849	Chr.19: 13207865-13207889 on Build GRCh38
rs762678287	Chr.19: 13207993-13207993 on Build GRCh38
rs772835259	Chr.19: 13207857-13207858 on Build GRCh38
rs370146696	Chr.19: 13207859-13207861 on Build GRCh38
rs765169827	Chr.19: 13207859-13207876 on Build GRCh38
rs913556946	Chr.19: 13207725-13207725 on Build GRCh38
rs1051999	Chr.19: 13207744-13207744 on Build GRCh38
rs897830115	Chr.19: 13207896-13207896 on Build GRCh38
rs758924907	Chr.19: 13207912-13207912 on Build GRCh38
rs939239756	Chr.19: 13207669-13207669 on Build GRCh38
rs781284309	Chr.19: 13208082-13208082 on Build GRCh38
rs16054	Chr.19: 13207859-13207864 on Build GRCh38
rs775223167	Chr.19: 13207991-13207991 on Build GRCh38
rs751454719	Chr.19: 13207727-13207727 on Build GRCh38
rs969442705	Chr.19: 13207955-13207955 on Build GRCh38
rs1043878354	Chr.19: 13207740-13207740 on Build GRCh38
rs768952980	Chr.19: 13207815-13207815 on Build GRCh38
rs763491028	Chr.19: 13207751-13207753 on Build GRCh38
rs193922932	Chr.19: 13207859-13207897 on Build GRCh38
rs4926142	Chr.19: 13207849-13207849 on Build GRCh38
rs890741509	Chr.19: 13207819-13207819 on Build GRCh38
rs962294174	Chr.19: 13207916-13207916 on Build GRCh38

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