Product Details

Primer Sequences
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Primer Chromosome Location
Chr.14: 73170896-73171121 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
6237837 c.327G>T p.K109N Chr.14: 73171036-73171036 on Build GRCh38
5676455 c.277A>G p.M93V Chr.14: 73170986-73170986 on Build GRCh38
6042800 c.222A>G p.T74T Chr.14: 73170931-73170931 on Build GRCh38
6140919 c.241C>T p.H81Y Chr.14: 73170950-73170950 on Build GRCh38
7385858 c.303G>C p.K101N Chr.14: 73171012-73171012 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs779909280 Chr.14: 73171072-73171072 on Build GRCh38
rs201500006 Chr.14: 73171046-73171046 on Build GRCh38
rs749249788 Chr.14: 73170959-73170959 on Build GRCh38
rs200600659 Chr.14: 73170949-73170949 on Build GRCh38
rs139863395 Chr.14: 73171030-73171030 on Build GRCh38
rs1057518919 Chr.14: 73171023-73171023 on Build GRCh38
rs780796290 Chr.14: 73171063-73171063 on Build GRCh38
rs63751141 Chr.14: 73170984-73170984 on Build GRCh38
rs749093893 Chr.14: 73171077-73171077 on Build GRCh38
rs200141310 Chr.14: 73170925-73170925 on Build GRCh38
rs769650189 Chr.14: 73170944-73170944 on Build GRCh38
rs63750815 Chr.14: 73170974-73170974 on Build GRCh38
rs63751475 Chr.14: 73171048-73171048 on Build GRCh38
rs200576075 Chr.14: 73171031-73171031 on Build GRCh38
rs199811023 Chr.14: 73171069-73171069 on Build GRCh38
rs754084958 Chr.14: 73171015-73171015 on Build GRCh38
rs1007193620 Chr.14: 73170978-73170978 on Build GRCh38
rs774257366 Chr.14: 73170970-73170970 on Build GRCh38
rs202094415 Chr.14: 73171068-73171068 on Build GRCh38
rs200465950 Chr.14: 73171075-73171075 on Build GRCh38
rs772162506 Chr.14: 73171095-73171095 on Build GRCh38
rs63750321 Chr.14: 73171024-73171024 on Build GRCh38
rs63750325 Chr.14: 73171022-73171022 on Build GRCh38
rs63750852 Chr.14: 73170998-73170998 on Build GRCh38
rs199564632 Chr.14: 73170952-73170952 on Build GRCh38
rs63750307 Chr.14: 73170956-73170961 on Build GRCh38
rs1017247975 Chr.14: 73170997-73170997 on Build GRCh38
rs762907738 Chr.14: 73170922-73170922 on Build GRCh38
rs756871556 Chr.14: 73171053-73171053 on Build GRCh38
rs768433317 Chr.14: 73171083-73171083 on Build GRCh38
rs63750601 Chr.14: 73170995-73170995 on Build GRCh38
rs63749824 Chr.14: 73170945-73170945 on Build GRCh38
rs769889869 Chr.14: 73171018-73171019 on Build GRCh38
rs146855665 Chr.14: 73170986-73170986 on Build GRCh38
rs762141719 Chr.14: 73171059-73171059 on Build GRCh38
rs766798700 Chr.14: 73171010-73171010 on Build GRCh38
rs63750599 Chr.14: 73170963-73170963 on Build GRCh38
rs768521549 Chr.14: 73170964-73170964 on Build GRCh38
rs63750831 Chr.14: 73170989-73170989 on Build GRCh38
rs143782428 Chr.14: 73170943-73170943 on Build GRCh38
rs200646139 Chr.14: 73171032-73171032 on Build GRCh38
rs63749967 Chr.14: 73170953-73170953 on Build GRCh38
rs140089088 Chr.14: 73171086-73171086 on Build GRCh38
rs778861365 Chr.14: 73171085-73171085 on Build GRCh38
rs63751399 Chr.14: 73171047-73171047 on Build GRCh38
rs201113902 Chr.14: 73170973-73170973 on Build GRCh38
rs760760368 Chr.14: 73171008-73171008 on Build GRCh38

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