Product Details

Primer Sequences
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Primer Chromosome Location
Chr.14: 67392237-67392737 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_016445.2 XM_011536644.2

Gene Symbol
PLEK2
Entrez Gene ID
26499
Gene Name
pleckstrin 2
Gene Aliases
-
UniGene
Hs.170473
Gene Chromosome Location
Chr.14: 67386979-67412200 on Build GRCh38
Transcripts
XM_017020925.1 NM_016445.2 XM_011536644.2

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
4051935 c.716T>C p.L239P Chr.14: 67392381-67392381 on Build GRCh38
147799 c.650C>G p.S217C Chr.14: 67392681-67392681 on Build GRCh38
4647776 c.733A>G p.S245G Chr.14: 67392364-67392364 on Build GRCh38
5909386 c.734G>T p.S245I Chr.14: 67392363-67392363 on Build GRCh38
957166 c.705A>C p.E235D Chr.14: 67392392-67392392 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs58627213 Chr.14: 67392683-67392683 on Build GRCh38
rs751845436 Chr.14: 67392436-67392436 on Build GRCh38
rs572561274 Chr.14: 67392435-67392435 on Build GRCh38
rs751794322 Chr.14: 67392335-67392335 on Build GRCh38
rs371552019 Chr.14: 67392621-67392621 on Build GRCh38
rs752820733 Chr.14: 67392680-67392680 on Build GRCh38
rs936971763 Chr.14: 67392439-67392439 on Build GRCh38
rs769319967 Chr.14: 67392637-67392638 on Build GRCh38
rs559778257 Chr.14: 67392664-67392664 on Build GRCh38
rs770670232 Chr.14: 67392372-67392372 on Build GRCh38
rs1032074520 Chr.14: 67392381-67392381 on Build GRCh38
rs762317692 Chr.14: 67392312-67392312 on Build GRCh38
rs1024598219 Chr.14: 67392296-67392296 on Build GRCh38
rs57113671 Chr.14: 67392717-67392717 on Build GRCh38
rs778742378 Chr.14: 67392709-67392709 on Build GRCh38
rs757053915 Chr.14: 67392477-67392477 on Build GRCh38
rs745461677 Chr.14: 67392387-67392387 on Build GRCh38
rs748045095 Chr.14: 67392350-67392350 on Build GRCh38
rs375283064 Chr.14: 67392432-67392432 on Build GRCh38
rs773755656 Chr.14: 67392429-67392429 on Build GRCh38
rs753776042 Chr.14: 67392700-67392700 on Build GRCh38
rs746500054 Chr.14: 67392636-67392636 on Build GRCh38
rs990039910 Chr.14: 67392483-67392483 on Build GRCh38
rs191982550 Chr.14: 67392578-67392578 on Build GRCh38
rs200259677 Chr.14: 67392357-67392357 on Build GRCh38
rs568439876 Chr.14: 67392350-67392350 on Build GRCh38
rs762289758 Chr.14: 67392421-67392421 on Build GRCh38
rs72719128 Chr.14: 67392487-67392487 on Build GRCh38
rs777534402 Chr.14: 67392639-67392640 on Build GRCh38
rs763496008 Chr.14: 67392667-67392667 on Build GRCh38
rs745577625 Chr.14: 67392628-67392628 on Build GRCh38
rs750806435 Chr.14: 67392319-67392319 on Build GRCh38
rs773888135 Chr.14: 67392283-67392283 on Build GRCh38
rs937393642 Chr.14: 67392538-67392538 on Build GRCh38
rs759738400 Chr.14: 67392445-67392445 on Build GRCh38
rs775064941 Chr.14: 67392401-67392401 on Build GRCh38
rs920677425 Chr.14: 67392523-67392523 on Build GRCh38
rs140572250 Chr.14: 67392679-67392679 on Build GRCh38
rs780962024 Chr.14: 67392608-67392608 on Build GRCh38
rs199743283 Chr.14: 67392674-67392674 on Build GRCh38
rs112316908 Chr.14: 67392568-67392568 on Build GRCh38
rs141642889 Chr.14: 67392394-67392394 on Build GRCh38
rs777476738 Chr.14: 67392356-67392356 on Build GRCh38
rs142133041 Chr.14: 67392497-67392498 on Build GRCh38
rs770547635 Chr.14: 67392278-67392278 on Build GRCh38
rs778556585 Chr.14: 67392380-67392380 on Build GRCh38
rs368604605 Chr.14: 67392456-67392456 on Build GRCh38
rs781276214 Chr.14: 67392340-67392340 on Build GRCh38
rs987353698 Chr.14: 67392481-67392481 on Build GRCh38
rs576642961 Chr.14: 67392501-67392501 on Build GRCh38
rs147214173 Chr.14: 67392425-67392425 on Build GRCh38
rs558187891 Chr.14: 67392488-67392488 on Build GRCh38
rs777715655 Chr.14: 67392469-67392469 on Build GRCh38
rs753723204 Chr.14: 67392476-67392476 on Build GRCh38
rs369611787 Chr.14: 67392292-67392292 on Build GRCh38
rs767551191 Chr.14: 67392450-67392450 on Build GRCh38
rs755638854 Chr.14: 67392658-67392658 on Build GRCh38
rs998918323 Chr.14: 67392665-67392665 on Build GRCh38
rs1036405416 Chr.14: 67392591-67392591 on Build GRCh38
rs757179307 Chr.14: 67392701-67392701 on Build GRCh38
rs148402806 Chr.14: 67392333-67392333 on Build GRCh38
rs916716992 Chr.14: 67392716-67392716 on Build GRCh38
rs777013541 Chr.14: 67392301-67392301 on Build GRCh38
rs771746544 Chr.14: 67392629-67392629 on Build GRCh38
rs765591207 Chr.14: 67392315-67392315 on Build GRCh38
rs756044497 Chr.14: 67392460-67392460 on Build GRCh38
rs758745359 Chr.14: 67392328-67392328 on Build GRCh38
rs755036157 Chr.14: 67392337-67392337 on Build GRCh38
rs999188777 Chr.14: 67392619-67392619 on Build GRCh38
rs771427999 Chr.14: 67392669-67392669 on Build GRCh38
rs748720607 Chr.14: 67392643-67392644 on Build GRCh38
rs768013481 Chr.14: 67392640-67392640 on Build GRCh38
rs1046481162 Chr.14: 67392551-67392551 on Build GRCh38
rs139783690 Chr.14: 67392681-67392681 on Build GRCh38
rs748099671 Chr.14: 67392342-67392342 on Build GRCh38
rs1050232896 Chr.14: 67392622-67392622 on Build GRCh38
rs767000603 Chr.14: 67392293-67392293 on Build GRCh38
rs1018707884 Chr.14: 67392657-67392657 on Build GRCh38
rs779481931 Chr.14: 67392633-67392633 on Build GRCh38
rs543744287 Chr.14: 67392550-67392550 on Build GRCh38
rs541568477 Chr.14: 67392583-67392583 on Build GRCh38
rs778746448 Chr.14: 67392530-67392530 on Build GRCh38

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