Product Details

Primer Sequences
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Primer Chromosome Location
Chr.14: 67364871-67365096 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
5848378 c.164G>A p.R55H Chr.14: 67364931-67364931 on Build GRCh38
4051933 c.235G>C p.E79Q Chr.14: 67365002-67365002 on Build GRCh38
5730405 c.142C>G p.L48V Chr.14: 67364909-67364909 on Build GRCh38
7264332 c.236delA p.G81fs*39 Chr.14: 67365003-67365003 on Build GRCh38
6895149 c.135G>A p.M45I Chr.14: 67364902-67364902 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs756898543 Chr.14: 67364987-67364987 on Build GRCh38
rs755970548 Chr.14: 67364953-67364953 on Build GRCh38
rs745367906 Chr.14: 67365004-67365004 on Build GRCh38
rs769090870 Chr.14: 67365013-67365013 on Build GRCh38
rs1019140685 Chr.14: 67365071-67365071 on Build GRCh38
rs781699987 Chr.14: 67365020-67365020 on Build GRCh38
rs771130294 Chr.14: 67365057-67365057 on Build GRCh38
rs749579163 Chr.14: 67365053-67365053 on Build GRCh38
rs767698961 Chr.14: 67365009-67365010 on Build GRCh38
rs759451377 Chr.14: 67364929-67364929 on Build GRCh38
rs778629855 Chr.14: 67364992-67364992 on Build GRCh38
rs748563321 Chr.14: 67365025-67365025 on Build GRCh38
rs141618976 Chr.14: 67364975-67364975 on Build GRCh38
rs891782501 Chr.14: 67365044-67365044 on Build GRCh38
rs753551182 Chr.14: 67364977-67364977 on Build GRCh38
rs374737409 Chr.14: 67365034-67365034 on Build GRCh38
rs764643381 Chr.14: 67365063-67365063 on Build GRCh38
rs1007950355 Chr.14: 67365070-67365070 on Build GRCh38
rs752864367 Chr.14: 67365010-67365011 on Build GRCh38
rs773499685 Chr.14: 67365047-67365047 on Build GRCh38
rs551574461 Chr.14: 67364947-67364947 on Build GRCh38
rs755389283 Chr.14: 67365009-67365012 on Build GRCh38

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