Product Details

Primer Sequences
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Primer Chromosome Location
Chr.14: 66922499-66922758 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
4913386 c.544G>T p.E182* Chr.14: 66922753-66922753 on Build GRCh38
5382531 c.502C>T p.L168F Chr.14: 66922711-66922711 on Build GRCh38
4051919 c.515C>T p.A172V Chr.14: 66922724-66922724 on Build GRCh38
3497223 c.466C>T p.Q156* Chr.14: 66922675-66922675 on Build GRCh38
3419969 c.499G>T p.D167Y Chr.14: 66922708-66922708 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs749859135 Chr.14: 66922710-66922710 on Build GRCh38
rs928365129 Chr.14: 66922559-66922559 on Build GRCh38
rs910287556 Chr.14: 66922569-66922569 on Build GRCh38
rs775343201 Chr.14: 66922574-66922574 on Build GRCh38
rs761317030 Chr.14: 66922667-66922667 on Build GRCh38
rs558954236 Chr.14: 66922538-66922538 on Build GRCh38
rs768057286 Chr.14: 66922717-66922717 on Build GRCh38
rs889646027 Chr.14: 66922606-66922606 on Build GRCh38
rs765769429 Chr.14: 66922639-66922640 on Build GRCh38
rs74936384 Chr.14: 66922629-66922629 on Build GRCh38
rs552614595 Chr.14: 66922587-66922587 on Build GRCh38
rs551889185 Chr.14: 66922584-66922584 on Build GRCh38
rs768570275 Chr.14: 66922660-66922660 on Build GRCh38
rs771045451 Chr.14: 66922624-66922624 on Build GRCh38
rs78369678 Chr.14: 66922586-66922586 on Build GRCh38
rs776431468 Chr.14: 66922663-66922663 on Build GRCh38
rs112443999 Chr.14: 66922557-66922557 on Build GRCh38
rs764823306 Chr.14: 66922705-66922705 on Build GRCh38
rs745850208 Chr.14: 66922637-66922637 on Build GRCh38
rs527242930 Chr.14: 66922571-66922571 on Build GRCh38
rs930238508 Chr.14: 66922601-66922601 on Build GRCh38
rs966531598 Chr.14: 66922651-66922651 on Build GRCh38
rs541706472 Chr.14: 66922545-66922545 on Build GRCh38
rs956810579 Chr.14: 66922530-66922530 on Build GRCh38
rs373140442 Chr.14: 66922592-66922592 on Build GRCh38
rs371904779 Chr.14: 66922718-66922718 on Build GRCh38
rs770031914 Chr.14: 66922541-66922541 on Build GRCh38
rs377162663 Chr.14: 66922640-66922640 on Build GRCh38
rs773936647 Chr.14: 66922640-66922640 on Build GRCh38
rs775546697 Chr.14: 66922649-66922649 on Build GRCh38
rs760605677 Chr.14: 66922653-66922653 on Build GRCh38
rs948845291 Chr.14: 66922542-66922542 on Build GRCh38
rs771946114 Chr.14: 66922639-66922639 on Build GRCh38
rs990369556 Chr.14: 66922529-66922529 on Build GRCh38

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