Product Details

Primer Sequences

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Primer Chromosome Location

Chr.1: 226888872-226889107 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
5215817	c.854C>T	p.A285V	Chr.1: 226889017-226889017 on Build GRCh38
1320438	c.763A>T	p.I255F	Chr.1: 226889025-226889025 on Build GRCh38
6282429	c.715C>T	p.L239L	Chr.1: 226888878-226888878 on Build GRCh38
904774	c.701T>C	p.M234T	Chr.1: 226888963-226888963 on Build GRCh38
1339321	c.640G>A	p.V214M	Chr.1: 226888902-226888902 on Build GRCh38
3360717	c.742G>A	p.G248S	Chr.1: 226888905-226888905 on Build GRCh38
6282428	c.616C>T	p.L206L	Chr.1: 226888878-226888878 on Build GRCh38
1178404	c.756G>C	p.A252A	Chr.1: 226889018-226889018 on Build GRCh38
5165001	c.870C>T	p.G290G	Chr.1: 226889033-226889033 on Build GRCh38
4718356	c.772G>A	p.A258T	Chr.1: 226889034-226889034 on Build GRCh38
3484311	c.872C>T	p.A291V	Chr.1: 226889035-226889035 on Build GRCh38
4455363	c.843A>G	p.P281P	Chr.1: 226889006-226889006 on Build GRCh38
4441875	c.809C>T	p.A270V	Chr.1: 226888972-226888972 on Build GRCh38
1339323	c.731T>A	p.I244N	Chr.1: 226888993-226888993 on Build GRCh38
6541835	c.735G>T	p.G245G	Chr.1: 226888898-226888898 on Build GRCh38
5501032	c.756G>A	p.A252A	Chr.1: 226889018-226889018 on Build GRCh38
1339322	c.710C>T	p.A237V	Chr.1: 226888972-226888972 on Build GRCh38
3360719	c.842C>A	p.P281Q	Chr.1: 226889005-226889005 on Build GRCh38
5501033	c.855G>A	p.A285A	Chr.1: 226889018-226889018 on Build GRCh38
904775	c.778T>C	p.S260P	Chr.1: 226889040-226889040 on Build GRCh38
1339324	c.771C>T	p.G257G	Chr.1: 226889033-226889033 on Build GRCh38
6541834	c.636G>T	p.G212G	Chr.1: 226888898-226888898 on Build GRCh38
5917356	c.668G>A	p.G223D	Chr.1: 226888930-226888930 on Build GRCh38
5888611	c.727A>T	p.N243Y	Chr.1: 226888890-226888890 on Build GRCh38
5888610	c.628A>T	p.N210Y	Chr.1: 226888890-226888890 on Build GRCh38
5917357	c.767G>A	p.G256D	Chr.1: 226888930-226888930 on Build GRCh38
4718357	c.871G>A	p.A291T	Chr.1: 226889034-226889034 on Build GRCh38
4455362	c.744A>G	p.P248P	Chr.1: 226889006-226889006 on Build GRCh38
4507131	c.837C>A	p.Y279*	Chr.1: 226889000-226889000 on Build GRCh38
1689922	c.773C>T	p.A258V	Chr.1: 226889035-226889035 on Build GRCh38
425469	c.755C>T	p.A252V	Chr.1: 226889017-226889017 on Build GRCh38
6124876	c.711G>T	p.A237A	Chr.1: 226888973-226888973 on Build GRCh38
5154470	c.739G>A	p.V247M	Chr.1: 226888902-226888902 on Build GRCh38
5130152	c.830T>A	p.I277N	Chr.1: 226888993-226888993 on Build GRCh38
6124877	c.810G>T	p.A270A	Chr.1: 226888973-226888973 on Build GRCh38
6061667	c.685C>A	p.Q229K	Chr.1: 226888947-226888947 on Build GRCh38
6061668	c.784C>A	p.Q262K	Chr.1: 226888947-226888947 on Build GRCh38
3360718	c.743C>A	p.P248Q	Chr.1: 226889005-226889005 on Build GRCh38
3360716	c.643G>A	p.G215S	Chr.1: 226888905-226888905 on Build GRCh38
4507130	c.738C>A	p.Y246*	Chr.1: 226889000-226889000 on Build GRCh38

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SNP Detail

SNP ID	Chromosome Location
rs777235854	Chr.1: 226888998-226888998 on Build GRCh38
rs201908554	Chr.1: 226888959-226888959 on Build GRCh38
rs200173519	Chr.1: 226888896-226888896 on Build GRCh38
rs766159571	Chr.1: 226889031-226889031 on Build GRCh38
rs932889540	Chr.1: 226889079-226889079 on Build GRCh38
rs28936379	Chr.1: 226888977-226888977 on Build GRCh38
rs574125890	Chr.1: 226888902-226888902 on Build GRCh38
rs201292728	Chr.1: 226889025-226889025 on Build GRCh38
rs145400391	Chr.1: 226889006-226889006 on Build GRCh38
rs61730652	Chr.1: 226888970-226888970 on Build GRCh38
rs760698293	Chr.1: 226889027-226889027 on Build GRCh38
rs190477948	Chr.1: 226888904-226888904 on Build GRCh38
rs202003390	Chr.1: 226888973-226888973 on Build GRCh38
rs560839429	Chr.1: 226889073-226889073 on Build GRCh38
rs200754713	Chr.1: 226888954-226888954 on Build GRCh38
rs201403206	Chr.1: 226889017-226889017 on Build GRCh38
rs7539017	Chr.1: 226889033-226889033 on Build GRCh38
rs140562931	Chr.1: 226889001-226889001 on Build GRCh38
rs199760083	Chr.1: 226888895-226888895 on Build GRCh38
rs201563376	Chr.1: 226889087-226889087 on Build GRCh38
rs754569211	Chr.1: 226888954-226888955 on Build GRCh38
rs757955974	Chr.1: 226888994-226888994 on Build GRCh38
rs566471708	Chr.1: 226889052-226889052 on Build GRCh38
rs369429245	Chr.1: 226889032-226889032 on Build GRCh38
rs773410250	Chr.1: 226889022-226889022 on Build GRCh38
rs138836272	Chr.1: 226889016-226889016 on Build GRCh38
rs768941393	Chr.1: 226889077-226889077 on Build GRCh38
rs145010538	Chr.1: 226888952-226888952 on Build GRCh38
rs371562367	Chr.1: 226888991-226888991 on Build GRCh38
rs200332829	Chr.1: 226889015-226889015 on Build GRCh38
rs63749884	Chr.1: 226888979-226888979 on Build GRCh38
rs63750880	Chr.1: 226888945-226888945 on Build GRCh38
rs751014475	Chr.1: 226889057-226889057 on Build GRCh38
rs148238688	Chr.1: 226889034-226889034 on Build GRCh38
rs200670135	Chr.1: 226888972-226888972 on Build GRCh38
rs555809980	Chr.1: 226888901-226888901 on Build GRCh38
rs764165210	Chr.1: 226888937-226888937 on Build GRCh38
rs200133314	Chr.1: 226888987-226888987 on Build GRCh38
rs367855127	Chr.1: 226888974-226888974 on Build GRCh38
rs750424014	Chr.1: 226888961-226888961 on Build GRCh38
rs777323657	Chr.1: 226889056-226889056 on Build GRCh38
rs200409502	Chr.1: 226889086-226889086 on Build GRCh38
rs778393774	Chr.1: 226888980-226888980 on Build GRCh38
rs779414075	Chr.1: 226889083-226889083 on Build GRCh38
rs781053654	Chr.1: 226889043-226889043 on Build GRCh38
rs756649903	Chr.1: 226889058-226889058 on Build GRCh38
rs202210060	Chr.1: 226889045-226889045 on Build GRCh38
rs780375882	Chr.1: 226889071-226889071 on Build GRCh38
rs748437025	Chr.1: 226889085-226889085 on Build GRCh38
rs748521246	Chr.1: 226889080-226889081 on Build GRCh38
rs201055590	Chr.1: 226889043-226889043 on Build GRCh38
rs763295042	Chr.1: 226888936-226888936 on Build GRCh38
rs147702142	Chr.1: 226889018-226889018 on Build GRCh38

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