Product Details

Primer Sequences
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Primer Chromosome Location
Chr.14: 73147693-73148193 on Build GRCh38
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
PSEN1
Entrez Gene ID
5663
Gene Name
presenilin 1
Gene Aliases
AD3, FAD, PS-1, PS1, S182
UniGene
Hs.3260
Gene Chromosome Location
Chr.14: 73136435-73223691 on Build GRCh38
Transcripts
NM_000021.3 NM_007318.2 XM_005267864.2 XM_005267866.1 XM_011536971.2 XM_011536972.2 XM_011536973.1 XM_011536974.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
326257 c.3G>A p.M1I Chr.14: 73148022-73148022 on Build GRCh38
7330951 c.82delA p.S28fs*46 Chr.14: 73148101-73148101 on Build GRCh38
7330950 c.82delA p.S28fs*46 Chr.14: 73148101-73148101 on Build GRCh38
7082075 c.7G>A p.E3K Chr.14: 73148026-73148026 on Build GRCh38
7082076 c.7G>A p.E3K Chr.14: 73148026-73148026 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs761376196 Chr.14: 73147997-73147997 on Build GRCh38
rs200022075 Chr.14: 73148155-73148155 on Build GRCh38
rs953269496 Chr.14: 73147920-73147920 on Build GRCh38
rs187665814 Chr.14: 73147753-73147753 on Build GRCh38
rs886050663 Chr.14: 73148098-73148098 on Build GRCh38
rs758564824 Chr.14: 73148043-73148043 on Build GRCh38
rs760615714 Chr.14: 73148017-73148017 on Build GRCh38
rs746638387 Chr.14: 73148150-73148150 on Build GRCh38
rs957542662 Chr.14: 73147800-73147800 on Build GRCh38
rs199648497 Chr.14: 73147904-73147904 on Build GRCh38
rs929414390 Chr.14: 73147723-73147723 on Build GRCh38
rs746347339 Chr.14: 73147969-73147969 on Build GRCh38
rs200203966 Chr.14: 73147810-73147810 on Build GRCh38
rs199759305 Chr.14: 73148066-73148066 on Build GRCh38
rs766248021 Chr.14: 73148020-73148020 on Build GRCh38
rs756576165 Chr.14: 73148094-73148094 on Build GRCh38
rs747750345 Chr.14: 73148106-73148106 on Build GRCh38
rs760611656 Chr.14: 73147742-73147742 on Build GRCh38
rs771477972 Chr.14: 73148111-73148111 on Build GRCh38
rs1033707188 Chr.14: 73147785-73147785 on Build GRCh38
rs753444183 Chr.14: 73147932-73147932 on Build GRCh38
rs771695417 Chr.14: 73147998-73147998 on Build GRCh38
rs200708784 Chr.14: 73148145-73148145 on Build GRCh38
rs773871073 Chr.14: 73147990-73147990 on Build GRCh38
rs1000031277 Chr.14: 73147916-73147916 on Build GRCh38
rs568497767 Chr.14: 73148087-73148087 on Build GRCh38
rs149562759 Chr.14: 73148099-73148099 on Build GRCh38
rs950117253 Chr.14: 73148098-73148098 on Build GRCh38
rs116466962 Chr.14: 73148040-73148040 on Build GRCh38
rs796710298 Chr.14: 73148008-73148008 on Build GRCh38
rs571028225 Chr.14: 73147924-73147924 on Build GRCh38
rs201270197 Chr.14: 73147882-73147882 on Build GRCh38
rs918641083 Chr.14: 73148096-73148096 on Build GRCh38
rs745393397 Chr.14: 73147997-73147997 on Build GRCh38
rs201506908 Chr.14: 73147832-73147832 on Build GRCh38
rs768069021 Chr.14: 73147970-73147970 on Build GRCh38
rs200737712 Chr.14: 73147930-73147930 on Build GRCh38
rs201019627 Chr.14: 73147761-73147761 on Build GRCh38
rs202072789 Chr.14: 73147833-73147833 on Build GRCh38
rs201709970 Chr.14: 73147766-73147766 on Build GRCh38
rs552864532 Chr.14: 73147888-73147888 on Build GRCh38
rs780917786 Chr.14: 73148084-73148084 on Build GRCh38
rs371112119 Chr.14: 73148034-73148034 on Build GRCh38
rs940534795 Chr.14: 73148016-73148016 on Build GRCh38
rs200598249 Chr.14: 73148090-73148090 on Build GRCh38
rs200583938 Chr.14: 73147842-73147842 on Build GRCh38
rs964004104 Chr.14: 73148164-73148164 on Build GRCh38
rs201386708 Chr.14: 73148147-73148147 on Build GRCh38
rs975680386 Chr.14: 73147879-73147879 on Build GRCh38
rs965773354 Chr.14: 73147864-73147864 on Build GRCh38
rs772984560 Chr.14: 73148003-73148003 on Build GRCh38
rs550343284 Chr.14: 73148083-73148083 on Build GRCh38
rs201945418 Chr.14: 73148093-73148093 on Build GRCh38
rs770874103 Chr.14: 73148156-73148156 on Build GRCh38
rs759499223 Chr.14: 73148037-73148037 on Build GRCh38

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