Product Details

Primer Sequences

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Primer Chromosome Location

Chr.1: 226885509-226885766 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

PSEN2

Entrez Gene ID

5664

Gene Name

presenilin 2

Gene Aliases

AD3L, AD4, CMD1V, PS2, STM2

UniGene

Hs.25363

Gene Chromosome Location

Chr.1: 226870572-226903829 on Build GRCh38

Transcripts

NM_000447.2 NM_012486.2 XM_005273199.3 XM_017001835.1 XM_017001836.1

Cosmic Detail

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Cosmic ID	Mutation	AA	Transcript Location
4978975	c.447C>T	p.I149I	Chr.1: 226885628-226885628 on Build GRCh38
904771	c.413C>G	p.S138C	Chr.1: 226885594-226885594 on Build GRCh38
904772	c.475C>A	p.L159I	Chr.1: 226885656-226885656 on Build GRCh38
4973719	c.415G>A	p.V139M	Chr.1: 226885596-226885596 on Build GRCh38
904770	c.401G>A	p.R134H	Chr.1: 226885582-226885582 on Build GRCh38
7289301	c.488G>A	p.R163H	Chr.1: 226885669-226885669 on Build GRCh38
464048	c.448G>T	p.V150L	Chr.1: 226885629-226885629 on Build GRCh38
1179983	c.441C>T	p.S147S	Chr.1: 226885622-226885622 on Build GRCh38
5735857	c.541G>A	p.V181I	Chr.1: 226885623-226885623 on Build GRCh38
5735856	c.442G>A	p.V148I	Chr.1: 226885623-226885623 on Build GRCh38
6565017	c.507C>T	p.L169L	Chr.1: 226885589-226885589 on Build GRCh38
5797583	c.473C>T	p.T158I	Chr.1: 226885555-226885555 on Build GRCh38
4493365	c.512C>T	p.S171F	Chr.1: 226885594-226885594 on Build GRCh38
6565016	c.408C>T	p.L136L	Chr.1: 226885589-226885589 on Build GRCh38
5525471	c.564C>T	p.F188F	Chr.1: 226885646-226885646 on Build GRCh38
6541833	c.478G>T	p.D160Y	Chr.1: 226885560-226885560 on Build GRCh38
5525470	c.465C>T	p.F155F	Chr.1: 226885646-226885646 on Build GRCh38
1560248	c.414C>T	p.S138S	Chr.1: 226885595-226885595 on Build GRCh38
4450149	c.566_571delTGGTGG	p.V190_V191delVV	Chr.1: 226885648-226885653 on Build GRCh38
6541832	c.379G>T	p.D127Y	Chr.1: 226885560-226885560 on Build GRCh38
4450148	c.467_472delTGGTGG	p.V157_V158delVV	Chr.1: 226885648-226885653 on Build GRCh38
6757466	c.448G>A	p.V150M	Chr.1: 226885629-226885629 on Build GRCh38
4566483	c.489_490GG>AA	p.V164M	Chr.1: 226885571-226885572 on Build GRCh38
6757467	c.547G>A	p.V183M	Chr.1: 226885629-226885629 on Build GRCh38
5797582	c.374C>T	p.T125I	Chr.1: 226885555-226885555 on Build GRCh38
5076503	c.513C>T	p.S171S	Chr.1: 226885595-226885595 on Build GRCh38
6061670	c.456C>T	p.L152L	Chr.1: 226885538-226885538 on Build GRCh38
4566482	c.390_391GG>AA	p.V131M	Chr.1: 226885571-226885572 on Build GRCh38
6061669	c.357C>T	p.L119L	Chr.1: 226885538-226885538 on Build GRCh38
7289302	c.587G>A	p.R196H	Chr.1: 226885669-226885669 on Build GRCh38
6901896	c.485A>G	p.Y162C	Chr.1: 226885666-226885666 on Build GRCh38
6901897	c.584A>G	p.Y195C	Chr.1: 226885666-226885666 on Build GRCh38
4978976	c.546C>T	p.I182I	Chr.1: 226885628-226885628 on Build GRCh38
4493364	c.413C>T	p.S138F	Chr.1: 226885594-226885594 on Build GRCh38
4973720	c.514G>A	p.V172M	Chr.1: 226885596-226885596 on Build GRCh38

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SNP Detail

SNP ID	Chromosome Location
rs201196514	Chr.1: 226885610-226885610 on Build GRCh38
rs772893473	Chr.1: 226885696-226885696 on Build GRCh38
rs753615781	Chr.1: 226885709-226885709 on Build GRCh38
rs63750215	Chr.1: 226885603-226885603 on Build GRCh38
rs985104147	Chr.1: 226885661-226885661 on Build GRCh38
rs202178897	Chr.1: 226885596-226885596 on Build GRCh38
rs200931244	Chr.1: 226885668-226885668 on Build GRCh38
rs767829568	Chr.1: 226885686-226885700 on Build GRCh38
rs139573101	Chr.1: 226885641-226885641 on Build GRCh38
rs541495335	Chr.1: 226885747-226885747 on Build GRCh38
rs760299337	Chr.1: 226885600-226885600 on Build GRCh38
rs756296193	Chr.1: 226885648-226885648 on Build GRCh38
rs766702020	Chr.1: 226885734-226885734 on Build GRCh38
rs767181943	Chr.1: 226885534-226885534 on Build GRCh38
rs778936527	Chr.1: 226885669-226885669 on Build GRCh38
rs28936380	Chr.1: 226885546-226885546 on Build GRCh38
rs200981406	Chr.1: 226885535-226885535 on Build GRCh38
rs866044092	Chr.1: 226885629-226885629 on Build GRCh38
rs200924879	Chr.1: 226885592-226885592 on Build GRCh38
rs770519379	Chr.1: 226885707-226885707 on Build GRCh38
rs116003409	Chr.1: 226885604-226885604 on Build GRCh38
rs372616074	Chr.1: 226885532-226885532 on Build GRCh38
rs747738607	Chr.1: 226885595-226885595 on Build GRCh38
rs768523579	Chr.1: 226885527-226885527 on Build GRCh38
rs1004970794	Chr.1: 226885617-226885617 on Build GRCh38
rs375424407	Chr.1: 226885692-226885692 on Build GRCh38
rs758985161	Chr.1: 226885556-226885556 on Build GRCh38
rs148996705	Chr.1: 226885547-226885547 on Build GRCh38
rs566090689	Chr.1: 226885746-226885746 on Build GRCh38
rs370607299	Chr.1: 226885688-226885688 on Build GRCh38
rs200824392	Chr.1: 226885703-226885703 on Build GRCh38
rs61761208	Chr.1: 226885602-226885602 on Build GRCh38
rs547731225	Chr.1: 226885559-226885559 on Build GRCh38
rs566361436	Chr.1: 226885563-226885563 on Build GRCh38
rs199654606	Chr.1: 226885636-226885636 on Build GRCh38
rs903335386	Chr.1: 226885608-226885608 on Build GRCh38
rs761557286	Chr.1: 226885533-226885533 on Build GRCh38
rs373254101	Chr.1: 226885737-226885737 on Build GRCh38
rs756346917	Chr.1: 226885582-226885582 on Build GRCh38
rs780284265	Chr.1: 226885650-226885650 on Build GRCh38
rs750095720	Chr.1: 226885536-226885536 on Build GRCh38
rs149428641	Chr.1: 226885694-226885694 on Build GRCh38
rs200617488	Chr.1: 226885718-226885718 on Build GRCh38
rs748154107	Chr.1: 226885676-226885676 on Build GRCh38
rs1017893609	Chr.1: 226885693-226885693 on Build GRCh38
rs773059327	Chr.1: 226885599-226885599 on Build GRCh38
rs2236910	Chr.1: 226885709-226885709 on Build GRCh38
rs63750812	Chr.1: 226885623-226885623 on Build GRCh38
rs753371172	Chr.1: 226885553-226885553 on Build GRCh38
rs63749851	Chr.1: 226885545-226885545 on Build GRCh38
rs781597971	Chr.1: 226885571-226885571 on Build GRCh38
rs201613477	Chr.1: 226885700-226885700 on Build GRCh38
rs755101354	Chr.1: 226885663-226885663 on Build GRCh38
rs144791481	Chr.1: 226885719-226885719 on Build GRCh38
rs114334281	Chr.1: 226885622-226885622 on Build GRCh38
rs201892898	Chr.1: 226885620-226885620 on Build GRCh38
rs200108534	Chr.1: 226885727-226885727 on Build GRCh38
rs764718172	Chr.1: 226885611-226885611 on Build GRCh38
rs767835970	Chr.1: 226885628-226885628 on Build GRCh38
rs746117072	Chr.1: 226885580-226885580 on Build GRCh38
rs749301595	Chr.1: 226885591-226885591 on Build GRCh38
rs752002301	Chr.1: 226885564-226885564 on Build GRCh38
rs201590095	Chr.1: 226885605-226885605 on Build GRCh38
rs868256785	Chr.1: 226885738-226885738 on Build GRCh38
rs750785455	Chr.1: 226885729-226885729 on Build GRCh38
rs63750197	Chr.1: 226885570-226885570 on Build GRCh38

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