Product Details

Primer Sequences
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Primer Chromosome Location
Chr.14: 67364675-67365175 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
122804 c.43G>C p.E15Q Chr.14: 67364810-67364810 on Build GRCh38
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
7089111 c.90G>T p.M30I Chr.14: 67364857-67364857 on Build GRCh38
5730405 c.142C>G p.L48V Chr.14: 67364909-67364909 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs745367906 Chr.14: 67365004-67365004 on Build GRCh38
rs754878756 Chr.14: 67364718-67364718 on Build GRCh38
rs922956121 Chr.14: 67365098-67365098 on Build GRCh38
rs748563321 Chr.14: 67365025-67365025 on Build GRCh38
rs537221835 Chr.14: 67365105-67365105 on Build GRCh38
rs766451703 Chr.14: 67364886-67364886 on Build GRCh38
rs375074521 Chr.14: 67364764-67364764 on Build GRCh38
rs148435097 Chr.14: 67365122-67365122 on Build GRCh38
rs538589324 Chr.14: 67364738-67364739 on Build GRCh38
rs752864367 Chr.14: 67365010-67365011 on Build GRCh38
rs957642292 Chr.14: 67365150-67365150 on Build GRCh38
rs908963160 Chr.14: 67365117-67365117 on Build GRCh38
rs1019140685 Chr.14: 67365071-67365071 on Build GRCh38
rs769198766 Chr.14: 67364779-67364779 on Build GRCh38
rs983088202 Chr.14: 67365105-67365108 on Build GRCh38
rs559407878 Chr.14: 67364772-67364772 on Build GRCh38
rs749579163 Chr.14: 67365053-67365053 on Build GRCh38
rs767698961 Chr.14: 67365009-67365010 on Build GRCh38
rs929070142 Chr.14: 67364707-67364708 on Build GRCh38
rs773454508 Chr.14: 67364846-67364846 on Build GRCh38
rs941872513 Chr.14: 67364739-67364739 on Build GRCh38
rs147827666 Chr.14: 67364866-67364866 on Build GRCh38
rs756898543 Chr.14: 67364987-67364987 on Build GRCh38
rs751635358 Chr.14: 67364891-67364891 on Build GRCh38
rs144522814 Chr.14: 67364799-67364799 on Build GRCh38
rs571341446 Chr.14: 67364741-67364742 on Build GRCh38
rs776915139 Chr.14: 67364780-67364780 on Build GRCh38
rs762215087 Chr.14: 67364785-67364785 on Build GRCh38
rs781699987 Chr.14: 67365020-67365020 on Build GRCh38
rs766942321 Chr.14: 67364740-67364742 on Build GRCh38
rs771130294 Chr.14: 67365057-67365057 on Build GRCh38
rs751911276 Chr.14: 67364740-67364741 on Build GRCh38
rs759451377 Chr.14: 67364929-67364929 on Build GRCh38
rs778629855 Chr.14: 67364992-67364992 on Build GRCh38
rs891782501 Chr.14: 67365044-67365044 on Build GRCh38
rs141618976 Chr.14: 67364975-67364975 on Build GRCh38
rs780917595 Chr.14: 67364725-67364725 on Build GRCh38
rs374737409 Chr.14: 67365034-67365034 on Build GRCh38
rs1047495770 Chr.14: 67364708-67364708 on Build GRCh38
rs755389283 Chr.14: 67365009-67365012 on Build GRCh38
rs6573769 Chr.14: 67364742-67364742 on Build GRCh38
rs763302884 Chr.14: 67364738-67364738 on Build GRCh38
rs755970548 Chr.14: 67364953-67364953 on Build GRCh38
rs190604364 Chr.14: 67364717-67364717 on Build GRCh38
rs770040509 Chr.14: 67364789-67364789 on Build GRCh38
rs769090870 Chr.14: 67365013-67365013 on Build GRCh38
rs374574823 Chr.14: 67364773-67364773 on Build GRCh38
rs926220894 Chr.14: 67365136-67365136 on Build GRCh38
rs561223403 Chr.14: 67364704-67364704 on Build GRCh38
rs763111310 Chr.14: 67364863-67364863 on Build GRCh38
rs1018444090 Chr.14: 67365097-67365098 on Build GRCh38
rs976989547 Chr.14: 67365098-67365101 on Build GRCh38
rs183426592 Chr.14: 67365097-67365097 on Build GRCh38
rs373669248 Chr.14: 67364873-67364873 on Build GRCh38
rs879002099 Chr.14: 67365098-67365098 on Build GRCh38
rs776114333 Chr.14: 67364738-67364738 on Build GRCh38
rs748913582 Chr.14: 67364758-67364758 on Build GRCh38
rs753551182 Chr.14: 67364977-67364977 on Build GRCh38
rs764643381 Chr.14: 67365063-67365063 on Build GRCh38
rs1007950355 Chr.14: 67365070-67365070 on Build GRCh38
rs752524829 Chr.14: 67364726-67364726 on Build GRCh38
rs552205387 Chr.14: 67365102-67365102 on Build GRCh38
rs773499685 Chr.14: 67365047-67365047 on Build GRCh38
rs551574461 Chr.14: 67364947-67364947 on Build GRCh38

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