Product Details

Primer Sequences

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Primer Chromosome Location

Chr.19: 13214298-13214543 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
1304067	c.5802C>A	p.S1934S	Chr.19: 13214538-13214538 on Build GRCh38
3529009	c.5802C>T	p.S1934S	Chr.19: 13214538-13214538 on Build GRCh38
1304063	c.5815G>C	p.D1939H	Chr.19: 13214525-13214525 on Build GRCh38
3529005	c.5858G>A	p.G1953E	Chr.19: 13214315-13214315 on Build GRCh38
4947723	c.5854G>A	p.V1952M	Chr.19: 13214319-13214319 on Build GRCh38
474214	c.5806C>T	p.Q1936*	Chr.19: 13214537-13214537 on Build GRCh38
355428	c.5859G>A	p.V1953V	Chr.19: 13214317-13214317 on Build GRCh38
3529004	c.5861G>A	p.G1954E	Chr.19: 13214315-13214315 on Build GRCh38
474215	c.5803C>T	p.Q1935*	Chr.19: 13214537-13214537 on Build GRCh38
5388718	c.5844G>A	p.T1948T	Chr.19: 13214329-13214329 on Build GRCh38
3529008	c.5805C>T	p.S1935S	Chr.19: 13214538-13214538 on Build GRCh38
4668324	c.5871C>T	p.Y1957Y	Chr.19: 13214305-13214305 on Build GRCh38
6289819	c.5842+5G>A	p.?	Chr.19: 13214496-13214496 on Build GRCh38
86194	c.5857G>A	p.V1953M	Chr.19: 13214319-13214319 on Build GRCh38
3362677	c.5797C>T	p.L1933L	Chr.19: 13214543-13214543 on Build GRCh38
5388717	c.5847G>A	p.T1949T	Chr.19: 13214329-13214329 on Build GRCh38
3362676	c.5800C>T	p.L1934L	Chr.19: 13214543-13214543 on Build GRCh38
5388719	c.5847G>A	p.T1949T	Chr.19: 13214329-13214329 on Build GRCh38
709876	c.5837A>T	p.K1946M	Chr.19: 13214503-13214503 on Build GRCh38
3529006	c.5861G>A	p.G1954E	Chr.19: 13214315-13214315 on Build GRCh38
709873	c.5828C>T	p.T1943I	Chr.19: 13214512-13214512 on Build GRCh38
3529010	c.5805C>T	p.S1935S	Chr.19: 13214538-13214538 on Build GRCh38
474216	c.5806C>T	p.Q1936*	Chr.19: 13214537-13214537 on Build GRCh38
6289817	c.5842+5G>A	p.?	Chr.19: 13214496-13214496 on Build GRCh38
355427	c.5856G>A	p.V1952V	Chr.19: 13214317-13214317 on Build GRCh38
709872	c.5831C>T	p.T1944I	Chr.19: 13214512-13214512 on Build GRCh38
1304062	c.5818G>C	p.D1940H	Chr.19: 13214525-13214525 on Build GRCh38
709875	c.5840A>T	p.K1947M	Chr.19: 13214503-13214503 on Build GRCh38
4668322	c.5871C>T	p.Y1957Y	Chr.19: 13214305-13214305 on Build GRCh38
1304066	c.5805C>A	p.S1935S	Chr.19: 13214538-13214538 on Build GRCh38
709874	c.5831C>T	p.T1944I	Chr.19: 13214512-13214512 on Build GRCh38
355426	c.5859G>A	p.V1953V	Chr.19: 13214317-13214317 on Build GRCh38
4668323	c.5868C>T	p.Y1956Y	Chr.19: 13214305-13214305 on Build GRCh38
709877	c.5840A>T	p.K1947M	Chr.19: 13214503-13214503 on Build GRCh38
3362678	c.5800C>T	p.L1934L	Chr.19: 13214543-13214543 on Build GRCh38
1304064	c.5818G>C	p.D1940H	Chr.19: 13214525-13214525 on Build GRCh38
1304068	c.5805C>A	p.S1935S	Chr.19: 13214538-13214538 on Build GRCh38
6289818	c.5839+5G>A	p.?	Chr.19: 13214496-13214496 on Build GRCh38
4947722	c.5857G>A	p.V1953M	Chr.19: 13214319-13214319 on Build GRCh38

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SNP Detail

SNP ID	Chromosome Location
rs556502230	Chr.19: 13214350-13214350 on Build GRCh38
rs372261381	Chr.19: 13214340-13214340 on Build GRCh38
rs767035894	Chr.19: 13214451-13214451 on Build GRCh38
rs368203745	Chr.19: 13214329-13214329 on Build GRCh38
rs772598066	Chr.19: 13214340-13214341 on Build GRCh38
rs750093351	Chr.19: 13214458-13214458 on Build GRCh38
rs951196653	Chr.19: 13214500-13214500 on Build GRCh38
rs184658006	Chr.19: 13214347-13214347 on Build GRCh38
rs765769753	Chr.19: 13214352-13214352 on Build GRCh38
rs560179255	Chr.19: 13214477-13214477 on Build GRCh38
rs761332254	Chr.19: 13214374-13214374 on Build GRCh38
rs367895273	Chr.19: 13214372-13214372 on Build GRCh38
rs772163130	Chr.19: 13214339-13214339 on Build GRCh38
rs17846925	Chr.19: 13214415-13214415 on Build GRCh38
rs371733571	Chr.19: 13214491-13214491 on Build GRCh38
rs755806752	Chr.19: 13214460-13214460 on Build GRCh38
rs750284095	Chr.19: 13214435-13214435 on Build GRCh38
rs896854918	Chr.19: 13214450-13214450 on Build GRCh38
rs776065476	Chr.19: 13214494-13214495 on Build GRCh38
rs1005508013	Chr.19: 13214424-13214424 on Build GRCh38
rs748279762	Chr.19: 13214330-13214330 on Build GRCh38
rs971098914	Chr.19: 13214511-13214511 on Build GRCh38
rs758507856	Chr.19: 13214509-13214509 on Build GRCh38
rs188329345	Chr.19: 13214421-13214421 on Build GRCh38
rs534218994	Chr.19: 13214320-13214320 on Build GRCh38
rs748649290	Chr.19: 13214329-13214330 on Build GRCh38
rs771333825	Chr.19: 13214349-13214349 on Build GRCh38
rs779787185	Chr.19: 13214317-13214317 on Build GRCh38
rs993807681	Chr.19: 13214468-13214468 on Build GRCh38
rs749251058	Chr.19: 13214319-13214319 on Build GRCh38
rs777815999	Chr.19: 13214520-13214520 on Build GRCh38
rs756095565	Chr.19: 13214486-13214486 on Build GRCh38
rs766183151	Chr.19: 13214463-13214463 on Build GRCh38

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