Product Details

Primer Sequences

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Primer Chromosome Location

Chr.14: 67562105-67562366 on Build GRCh38 View in UCSC browser

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_017021499.1 XM_017021500.1 XM_017021501.1 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_017021499.1 XM_017021500.1 XM_017021501.1 XM_017021503.1 XM_017021504.1

Cosmic Detail

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Cosmic ID	Mutation	AA	Transcript Location
1370697	c.667C>A	p.L223M	Chr.14: 67562298-67562298 on Build GRCh38
1370698	c.784C>A	p.L262M	Chr.14: 67562298-67562298 on Build GRCh38
4557507	c.730G>A	p.V244I	Chr.14: 67562361-67562361 on Build GRCh38
5478731	c.506-9G>A	p.?	Chr.14: 67562128-67562128 on Build GRCh38
4518142	c.544_545CC>TT	p.P182F	Chr.14: 67562175-67562176 on Build GRCh38
5832804	c.657_658insC	p.Y222fs*49	Chr.14: 67562171-67562172 on Build GRCh38
7300070	c.728C>T	p.T243M	Chr.14: 67562359-67562359 on Build GRCh38
3419971	c.584C>T	p.P195L	Chr.14: 67562215-67562215 on Build GRCh38
4499512	c.660C>T	p.P220P	Chr.14: 67562174-67562174 on Build GRCh38
5848382	c.754G>A	p.A252T	Chr.14: 67562268-67562268 on Build GRCh38
5848381	c.637G>A	p.A213T	Chr.14: 67562268-67562268 on Build GRCh38
957175	c.795G>T	p.K265N	Chr.14: 67562309-67562309 on Build GRCh38
271474	c.734A>G	p.H245R	Chr.14: 67562365-67562365 on Build GRCh38
5816194	c.663C>G	p.P221P	Chr.14: 67562177-67562177 on Build GRCh38
5781854	c.643C>T	p.R215W	Chr.14: 67562157-67562157 on Build GRCh38
4895433	c.686C>A	p.S229Y	Chr.14: 67562200-67562200 on Build GRCh38
4499511	c.543C>T	p.P181P	Chr.14: 67562174-67562174 on Build GRCh38
1741979	c.520C>G	p.P174A	Chr.14: 67562151-67562151 on Build GRCh38
7300069	c.845C>T	p.T282M	Chr.14: 67562359-67562359 on Build GRCh38
3497253	c.753G>A	p.K251K	Chr.14: 67562267-67562267 on Build GRCh38
3497251	c.741C>T	p.A247A	Chr.14: 67562255-67562255 on Build GRCh38
5740138	c.664T>C	p.Y222H	Chr.14: 67562178-67562178 on Build GRCh38
5832803	c.540_541insC	p.Y183fs*49	Chr.14: 67562171-67562172 on Build GRCh38
7384554	c.820C>T	p.P274S	Chr.14: 67562334-67562334 on Build GRCh38
5816193	c.546C>G	p.P182P	Chr.14: 67562177-67562177 on Build GRCh38
2249132	c.722A>G	p.Q241R	Chr.14: 67562236-67562236 on Build GRCh38
5693405	c.777A>T	p.P259P	Chr.14: 67562291-67562291 on Build GRCh38
5781853	c.526C>T	p.R176W	Chr.14: 67562157-67562157 on Build GRCh38
4895432	c.569C>A	p.S190Y	Chr.14: 67562200-67562200 on Build GRCh38
2249126	c.666C>T	p.Y222Y	Chr.14: 67562180-67562180 on Build GRCh38
7384555	c.703C>T	p.P235S	Chr.14: 67562334-67562334 on Build GRCh38
4557508	c.847G>A	p.V283I	Chr.14: 67562361-67562361 on Build GRCh38
5478732	c.623-9G>A	p.?	Chr.14: 67562128-67562128 on Build GRCh38
2249131	c.605A>G	p.Q202R	Chr.14: 67562236-67562236 on Build GRCh38
4518143	c.661_662CC>TT	p.P221F	Chr.14: 67562175-67562176 on Build GRCh38
3497252	c.636G>A	p.K212K	Chr.14: 67562267-67562267 on Build GRCh38
2249125	c.549C>T	p.Y183Y	Chr.14: 67562180-67562180 on Build GRCh38
3497250	c.624C>T	p.A208A	Chr.14: 67562255-67562255 on Build GRCh38
3419972	c.701C>T	p.P234L	Chr.14: 67562215-67562215 on Build GRCh38
957174	c.678G>T	p.K226N	Chr.14: 67562309-67562309 on Build GRCh38
1741980	c.637C>G	p.P213A	Chr.14: 67562151-67562151 on Build GRCh38
5740137	c.547T>C	p.Y183H	Chr.14: 67562178-67562178 on Build GRCh38
5693404	c.660A>T	p.P220P	Chr.14: 67562291-67562291 on Build GRCh38

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SNP Detail

SNP ID	Chromosome Location
rs944217099	Chr.14: 67562185-67562185 on Build GRCh38
rs368366400	Chr.14: 67562157-67562157 on Build GRCh38
rs767336849	Chr.14: 67562225-67562225 on Build GRCh38
rs752160089	Chr.14: 67562278-67562278 on Build GRCh38
rs752462777	Chr.14: 67562226-67562226 on Build GRCh38
rs932950690	Chr.14: 67562174-67562174 on Build GRCh38
rs968338330	Chr.14: 67562266-67562266 on Build GRCh38
rs759460111	Chr.14: 67562216-67562216 on Build GRCh38
rs564069574	Chr.14: 67562215-67562215 on Build GRCh38
rs111383349	Chr.14: 67562334-67562334 on Build GRCh38
rs749511603	Chr.14: 67562315-67562315 on Build GRCh38
rs865956302	Chr.14: 67562214-67562214 on Build GRCh38
rs760466312	Chr.14: 67562233-67562233 on Build GRCh38
rs781696462	Chr.14: 67562289-67562289 on Build GRCh38
rs764193995	Chr.14: 67562164-67562164 on Build GRCh38
rs560070070	Chr.14: 67562158-67562158 on Build GRCh38
rs543477446	Chr.14: 67562337-67562337 on Build GRCh38
rs770933989	Chr.14: 67562196-67562196 on Build GRCh38
rs763665423	Chr.14: 67562241-67562241 on Build GRCh38
rs780710225	Chr.14: 67562155-67562155 on Build GRCh38
rs755510213	Chr.14: 67562281-67562281 on Build GRCh38
rs769942430	Chr.14: 67562179-67562179 on Build GRCh38
rs200350780	Chr.14: 67562331-67562331 on Build GRCh38
rs748485684	Chr.14: 67562290-67562290 on Build GRCh38
rs200696869	Chr.14: 67562176-67562176 on Build GRCh38
rs375403754	Chr.14: 67562236-67562236 on Build GRCh38
rs773436049	Chr.14: 67562181-67562181 on Build GRCh38
rs747500686	Chr.14: 67562171-67562172 on Build GRCh38
rs756892473	Chr.14: 67562261-67562261 on Build GRCh38
rs756767488	Chr.14: 67562139-67562139 on Build GRCh38
rs777865209	Chr.14: 67562310-67562310 on Build GRCh38
rs756445213	Chr.14: 67562292-67562292 on Build GRCh38
rs772903303	Chr.14: 67562180-67562180 on Build GRCh38
rs753462684	Chr.14: 67562246-67562246 on Build GRCh38
rs778552108	Chr.14: 67562271-67562271 on Build GRCh38
rs545474300	Chr.14: 67562184-67562184 on Build GRCh38

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