Product Details

Primer Sequences
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Primer Chromosome Location
Chr.14: 66924123-66924362 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
NM_001024218.1 NM_020806.4 XM_005267254.3 XM_011536340.2 XM_011536342.2 XM_011536343.2 XM_011536344.2 XM_011536345.2 XM_011536346.2 XM_011536347.2 XM_017020913.1 XM_017020914.1 XM_017020915.1 XM_017020916.1 XM_017020917.1 XM_017020918.1 XM_017020919.1 XM_017020920.1 XM_017020921.1 XM_017020922.1 XM_017020923.1 XM_017020924.1 XM_017020925.1 XM_017020926.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
287189 c.817A>G p.T273A Chr.14: 66924281-66924281 on Build GRCh38
957125 c.826C>T p.R276W Chr.14: 66924290-66924290 on Build GRCh38
6673257 c.827G>T p.R276L Chr.14: 66924291-66924291 on Build GRCh38
5924617 c.787C>T p.P263S Chr.14: 66924251-66924251 on Build GRCh38
281444 c.780G>A p.Q260Q Chr.14: 66924244-66924244 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs960957890 Chr.14: 66924278-66924278 on Build GRCh38
rs543454860 Chr.14: 66924185-66924185 on Build GRCh38
rs771609374 Chr.14: 66924282-66924282 on Build GRCh38
rs753042559 Chr.14: 66924161-66924162 on Build GRCh38
rs773971749 Chr.14: 66924272-66924272 on Build GRCh38
rs575826167 Chr.14: 66924208-66924208 on Build GRCh38
rs765574246 Chr.14: 66924175-66924175 on Build GRCh38
rs1001175732 Chr.14: 66924180-66924180 on Build GRCh38
rs966844291 Chr.14: 66924316-66924316 on Build GRCh38
rs756515605 Chr.14: 66924167-66924168 on Build GRCh38
rs199511542 Chr.14: 66924260-66924260 on Build GRCh38
rs767565175 Chr.14: 66924339-66924339 on Build GRCh38
rs766600695 Chr.14: 66924195-66924195 on Build GRCh38
rs751726828 Chr.14: 66924215-66924215 on Build GRCh38
rs561779418 Chr.14: 66924235-66924235 on Build GRCh38
rs777009433 Chr.14: 66924290-66924290 on Build GRCh38
rs41285470 Chr.14: 66924264-66924264 on Build GRCh38
rs745440766 Chr.14: 66924275-66924275 on Build GRCh38
rs200818040 Chr.14: 66924332-66924332 on Build GRCh38
rs988027321 Chr.14: 66924299-66924299 on Build GRCh38
rs748108654 Chr.14: 66924231-66924231 on Build GRCh38
rs755083907 Chr.14: 66924227-66924227 on Build GRCh38
rs964081476 Chr.14: 66924228-66924228 on Build GRCh38
rs369062570 Chr.14: 66924163-66924163 on Build GRCh38
rs533003321 Chr.14: 66924293-66924293 on Build GRCh38
rs781045927 Chr.14: 66924230-66924230 on Build GRCh38
rs762152734 Chr.14: 66924172-66924172 on Build GRCh38
rs764346460 Chr.14: 66924300-66924301 on Build GRCh38
rs201387623 Chr.14: 66924313-66924313 on Build GRCh38
rs763382762 Chr.14: 66924318-66924318 on Build GRCh38
rs765544216 Chr.14: 66924301-66924301 on Build GRCh38
rs528992608 Chr.14: 66924243-66924243 on Build GRCh38
rs766752192 Chr.14: 66924328-66924328 on Build GRCh38
rs371948902 Chr.14: 66924184-66924184 on Build GRCh38
rs756588496 Chr.14: 66924205-66924205 on Build GRCh38

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