Product Details

Primer Sequences
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Primer Chromosome Location
Chr.14: 67569833-67570331 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
GPHN
Entrez Gene ID
10243
Gene Name
gephyrin
Gene Aliases
GEPH, GPH, GPHRYN, HKPX1, MOCODC
UniGene
Hs.208765
Gene Chromosome Location
Chr.14: 66507407-67735831 on Build GRCh38
Transcripts
XM_017020925.1 NM_020715.2 XM_011537009.1 XM_011537015.2 XM_017021499.1 XM_017021500.1 XM_017021501.1 XM_017021502.1 XM_017021503.1 XM_017021504.1

Gene Symbol
PLEKHH1
Entrez Gene ID
57475
Gene Name
pleckstrin homology, MyTH4 and FERM domain containing H1
Gene Aliases
-
UniGene
Hs.594236
Gene Chromosome Location
Chr.14: 67533155-67589766 on Build GRCh38
Transcripts
XM_017020925.1 NM_020715.2 XM_011537009.1 XM_011537015.2 XM_017021499.1 XM_017021500.1 XM_017021501.1 XM_017021502.1 XM_017021503.1 XM_017021504.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
4464896 c.1475C>T p.A492V Chr.14: 67569936-67569936 on Build GRCh38
4464895 c.1358C>T p.A453V Chr.14: 67569936-67569936 on Build GRCh38
158703 c.1423G>A p.A475T Chr.14: 67570001-67570001 on Build GRCh38
6463634 c.1484C>T p.S495F Chr.14: 67569945-67569945 on Build GRCh38
6463633 c.1367C>T p.S456F Chr.14: 67569945-67569945 on Build GRCh38

SNP Detail

SNP ID Chromosome Location
rs773200744 Chr.14: 67570028-67570028 on Build GRCh38
rs144631480 Chr.14: 67570309-67570309 on Build GRCh38
rs762855729 Chr.14: 67570308-67570308 on Build GRCh38
rs762795049 Chr.14: 67569913-67569913 on Build GRCh38
rs368951410 Chr.14: 67569874-67569874 on Build GRCh38
rs752176538 Chr.14: 67569961-67569961 on Build GRCh38
rs45580633 Chr.14: 67569857-67569857 on Build GRCh38
rs888756769 Chr.14: 67570094-67570094 on Build GRCh38
rs780846311 Chr.14: 67569956-67569956 on Build GRCh38
rs893986397 Chr.14: 67570135-67570135 on Build GRCh38
rs996543051 Chr.14: 67569950-67569950 on Build GRCh38
rs1039295023 Chr.14: 67570186-67570186 on Build GRCh38
rs776846601 Chr.14: 67570012-67570012 on Build GRCh38
rs59589798 Chr.14: 67569872-67569872 on Build GRCh38
rs780547017 Chr.14: 67570002-67570002 on Build GRCh38
rs1015675772 Chr.14: 67570286-67570286 on Build GRCh38
rs901456663 Chr.14: 67570101-67570101 on Build GRCh38
rs945492572 Chr.14: 67570140-67570140 on Build GRCh38
rs1030471266 Chr.14: 67570255-67570255 on Build GRCh38
rs779350639 Chr.14: 67569989-67569989 on Build GRCh38
rs748191491 Chr.14: 67570018-67570018 on Build GRCh38
rs1056542078 Chr.14: 67570110-67570110 on Build GRCh38
rs982827683 Chr.14: 67570030-67570030 on Build GRCh38
rs900664371 Chr.14: 67570220-67570220 on Build GRCh38
rs183489446 Chr.14: 67570146-67570146 on Build GRCh38
rs149341763 Chr.14: 67570147-67570147 on Build GRCh38
rs955266453 Chr.14: 67570272-67570272 on Build GRCh38
rs191264111 Chr.14: 67570100-67570100 on Build GRCh38
rs769903014 Chr.14: 67570020-67570020 on Build GRCh38
rs537917119 Chr.14: 67570230-67570231 on Build GRCh38
rs1031128866 Chr.14: 67570122-67570122 on Build GRCh38
rs2273593 Chr.14: 67570136-67570136 on Build GRCh38
rs1050143189 Chr.14: 67570055-67570055 on Build GRCh38
rs766156545 Chr.14: 67569932-67569932 on Build GRCh38
rs926437398 Chr.14: 67570087-67570087 on Build GRCh38
rs750302656 Chr.14: 67569905-67569905 on Build GRCh38
rs35091785 Chr.14: 67569976-67569977 on Build GRCh38
rs754561229 Chr.14: 67569945-67569945 on Build GRCh38
rs974058679 Chr.14: 67570083-67570083 on Build GRCh38
rs755581767 Chr.14: 67569978-67569978 on Build GRCh38
rs747329536 Chr.14: 67570004-67570004 on Build GRCh38
rs1008539958 Chr.14: 67570098-67570098 on Build GRCh38
rs955144038 Chr.14: 67569966-67569966 on Build GRCh38
rs765091371 Chr.14: 67569884-67569884 on Build GRCh38
rs751252580 Chr.14: 67569943-67569943 on Build GRCh38
rs770585859 Chr.14: 67570010-67570010 on Build GRCh38
rs745521473 Chr.14: 67570041-67570041 on Build GRCh38
rs962910684 Chr.14: 67570039-67570039 on Build GRCh38
rs1000099512 Chr.14: 67570108-67570108 on Build GRCh38
rs762844377 Chr.14: 67570035-67570035 on Build GRCh38
rs1029392417 Chr.14: 67569963-67569963 on Build GRCh38
rs962442747 Chr.14: 67570287-67570287 on Build GRCh38
rs969360576 Chr.14: 67570253-67570253 on Build GRCh38
rs541207390 Chr.14: 67569875-67569875 on Build GRCh38
rs45457800 Chr.14: 67570036-67570036 on Build GRCh38
rs964886768 Chr.14: 67569926-67569926 on Build GRCh38
rs746376967 Chr.14: 67569992-67569992 on Build GRCh38
rs750719773 Chr.14: 67569986-67569986 on Build GRCh38
rs774151262 Chr.14: 67570047-67570047 on Build GRCh38
rs772607954 Chr.14: 67569996-67569996 on Build GRCh38
rs372734884 Chr.14: 67570281-67570281 on Build GRCh38
rs549547910 Chr.14: 67570150-67570150 on Build GRCh38

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