Product Details

Primer Sequences
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Primer Chromosome Location
Chr.14: 67727034-67727259 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
XM_017020925.1 NM_152443.2

Gene Symbol
RDH12
Entrez Gene ID
145226
Gene Name
retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
Gene Aliases
LCA13, RP53, SDR7C2
UniGene
Hs.415322
Gene Chromosome Location
Chr.14: 67701886-67734451 on Build GRCh38
Transcripts
XM_017020925.1 NM_152443.2

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
4890000 c.506G>C p.R169P Chr.14: 67727038-67727038 on Build GRCh38
6006113 c.565C>A p.Q189K Chr.14: 67727097-67727097 on Build GRCh38
4051966 c.578G>A p.R193H Chr.14: 67727110-67727110 on Build GRCh38
3497281 c.522C>T p.S174S Chr.14: 67727054-67727054 on Build GRCh38
4793690 c.618C>T p.A206A Chr.14: 67727150-67727150 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs998898101 Chr.14: 67727173-67727173 on Build GRCh38
rs104894472 Chr.14: 67727055-67727055 on Build GRCh38
rs116733939 Chr.14: 67727056-67727056 on Build GRCh38
rs146653515 Chr.14: 67727166-67727166 on Build GRCh38
rs753959716 Chr.14: 67727141-67727141 on Build GRCh38
rs368971478 Chr.14: 67727204-67727204 on Build GRCh38
rs574136093 Chr.14: 67727208-67727208 on Build GRCh38
rs144793387 Chr.14: 67727103-67727103 on Build GRCh38
rs116465785 Chr.14: 67727090-67727090 on Build GRCh38
rs780078705 Chr.14: 67727154-67727154 on Build GRCh38
rs115356583 Chr.14: 67727091-67727091 on Build GRCh38
rs756315539 Chr.14: 67727057-67727057 on Build GRCh38
rs567973980 Chr.14: 67727110-67727110 on Build GRCh38
rs878853341 Chr.14: 67727180-67727210 on Build GRCh38
rs1009028414 Chr.14: 67727137-67727137 on Build GRCh38
rs764346970 Chr.14: 67727222-67727222 on Build GRCh38
rs148629905 Chr.14: 67727109-67727109 on Build GRCh38
rs370741042 Chr.14: 67727054-67727054 on Build GRCh38
rs373032226 Chr.14: 67727062-67727062 on Build GRCh38
rs764600869 Chr.14: 67727108-67727108 on Build GRCh38
rs768588551 Chr.14: 67727120-67727120 on Build GRCh38
rs376350022 Chr.14: 67727087-67727087 on Build GRCh38
rs867508225 Chr.14: 67727147-67727147 on Build GRCh38
rs753074829 Chr.14: 67727114-67727114 on Build GRCh38
rs768529116 Chr.14: 67727167-67727167 on Build GRCh38
rs142117351 Chr.14: 67727111-67727111 on Build GRCh38
rs747732827 Chr.14: 67727182-67727182 on Build GRCh38
rs747183193 Chr.14: 67727153-67727153 on Build GRCh38
rs761052236 Chr.14: 67727213-67727213 on Build GRCh38
rs771268615 Chr.14: 67727162-67727162 on Build GRCh38
rs867284235 Chr.14: 67727122-67727122 on Build GRCh38
rs1032999368 Chr.14: 67727203-67727203 on Build GRCh38
rs762391730 Chr.14: 67727197-67727197 on Build GRCh38
rs775937640 Chr.14: 67727206-67727206 on Build GRCh38
rs372346477 Chr.14: 67727168-67727168 on Build GRCh38
rs371107041 Chr.14: 67727101-67727101 on Build GRCh38
rs140895705 Chr.14: 67727068-67727068 on Build GRCh38
rs535474444 Chr.14: 67727132-67727132 on Build GRCh38
rs776412935 Chr.14: 67727126-67727126 on Build GRCh38
rs769384787 Chr.14: 67727183-67727183 on Build GRCh38
rs891125540 Chr.14: 67727179-67727179 on Build GRCh38
rs104894470 Chr.14: 67727097-67727097 on Build GRCh38
rs772593066 Chr.14: 67727188-67727188 on Build GRCh38
rs368133299 Chr.14: 67727144-67727144 on Build GRCh38
rs778933833 Chr.14: 67727072-67727072 on Build GRCh38
rs387906272 Chr.14: 67727191-67727191 on Build GRCh38
rs745871149 Chr.14: 67727151-67727151 on Build GRCh38
rs374403088 Chr.14: 67727074-67727074 on Build GRCh38
rs756405179 Chr.14: 67727121-67727121 on Build GRCh38
rs79869437 Chr.14: 67727102-67727102 on Build GRCh38

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