Product Details

Primer Sequences
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Primer Chromosome Location
Chr.14: 67382378-67382647 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
EIF2S1
Entrez Gene ID
1965
Gene Name
eukaryotic translation initiation factor 2 subunit alpha
Gene Aliases
EIF-2, EIF-2A, EIF-2alpha, EIF2, EIF2A
UniGene
Hs.151777
Gene Chromosome Location
Chr.14: 67360317-67386516 on Build GRCh38
Transcripts
NM_004094.4 XM_017020925.1

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_004094.4 XM_017020925.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
6652737 c.700C>T p.R234W Chr.14: 67382468-67382468 on Build GRCh38
3419970 c.711G>T p.M237I Chr.14: 67382479-67382479 on Build GRCh38
5936053 c.745T>A p.S249T Chr.14: 67382513-67382513 on Build GRCh38
2249057 c.723C>T p.T241T Chr.14: 67382491-67382491 on Build GRCh38
4423447 c.716C>G p.T239R Chr.14: 67382484-67382484 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs368523962 Chr.14: 67382597-67382597 on Build GRCh38
rs745636387 Chr.14: 67382531-67382531 on Build GRCh38
rs943819925 Chr.14: 67382510-67382510 on Build GRCh38
rs767945325 Chr.14: 67382615-67382615 on Build GRCh38
rs532437432 Chr.14: 67382606-67382606 on Build GRCh38
rs201866540 Chr.14: 67382525-67382525 on Build GRCh38
rs771749302 Chr.14: 67382554-67382554 on Build GRCh38
rs77317687 Chr.14: 67382538-67382538 on Build GRCh38
rs755300499 Chr.14: 67382469-67382469 on Build GRCh38
rs749190731 Chr.14: 67382502-67382502 on Build GRCh38
rs763435739 Chr.14: 67382605-67382605 on Build GRCh38
rs773612996 Chr.14: 67382416-67382416 on Build GRCh38
rs746620818 Chr.14: 67382576-67382576 on Build GRCh38
rs768062689 Chr.14: 67382585-67382585 on Build GRCh38
rs765373575 Chr.14: 67382413-67382413 on Build GRCh38
rs756171865 Chr.14: 67382489-67382489 on Build GRCh38
rs140127317 Chr.14: 67382607-67382607 on Build GRCh38
rs761845726 Chr.14: 67382518-67382518 on Build GRCh38
rs371918861 Chr.14: 67382444-67382444 on Build GRCh38
rs199731295 Chr.14: 67382483-67382483 on Build GRCh38
rs751967754 Chr.14: 67382468-67382468 on Build GRCh38
rs781158063 Chr.14: 67382607-67382608 on Build GRCh38
rs960617159 Chr.14: 67382620-67382620 on Build GRCh38
rs775152151 Chr.14: 67382563-67382563 on Build GRCh38
rs1803529 Chr.14: 67382485-67382485 on Build GRCh38
rs956647755 Chr.14: 67382431-67382431 on Build GRCh38
rs374022130 Chr.14: 67382409-67382409 on Build GRCh38
rs199608296 Chr.14: 67382523-67382523 on Build GRCh38
rs2296561 Chr.14: 67382422-67382422 on Build GRCh38
rs777853532 Chr.14: 67382494-67382494 on Build GRCh38
rs899817237 Chr.14: 67382406-67382406 on Build GRCh38
rs200558505 Chr.14: 67382535-67382535 on Build GRCh38

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