Product Details

Primer Sequences
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Primer Chromosome Location
Chr.19: 45528781-45529349 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
OPA3
Entrez Gene ID
80207
Gene Name
optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
Gene Aliases
MGA3
UniGene
Hs.466945
Gene Chromosome Location
Chr.19: 45527767-45584864 on Build GRCh38
Transcripts
NM_001017989.2

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
6576595 c.489C>G p.L163L Chr.19: 45529110-45529110 on Build GRCh38
4079388 c.258G>T p.E86D Chr.19: 45529341-45529341 on Build GRCh38
998239 c.297G>A p.L99L Chr.19: 45529302-45529302 on Build GRCh38
4435239 c.320A>T p.Q107L Chr.19: 45529279-45529279 on Build GRCh38
6733384 c.272_274delTCA p.I91delI Chr.19: 45529325-45529327 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs373469627 Chr.19: 45529116-45529116 on Build GRCh38
rs766535284 Chr.19: 45529199-45529199 on Build GRCh38
rs745540793 Chr.19: 45529148-45529148 on Build GRCh38
rs71338780 Chr.19: 45528829-45528829 on Build GRCh38
rs1009842821 Chr.19: 45528843-45528843 on Build GRCh38
rs750700198 Chr.19: 45529052-45529054 on Build GRCh38
rs746582143 Chr.19: 45529238-45529238 on Build GRCh38
rs778914148 Chr.19: 45528825-45528827 on Build GRCh38
rs775820623 Chr.19: 45528992-45528992 on Build GRCh38
rs201023208 Chr.19: 45529085-45529085 on Build GRCh38
rs73568948 Chr.19: 45528866-45528866 on Build GRCh38
rs375580763 Chr.19: 45529057-45529057 on Build GRCh38
rs964590346 Chr.19: 45529215-45529215 on Build GRCh38
rs1020847906 Chr.19: 45528933-45528933 on Build GRCh38
rs767022079 Chr.19: 45529078-45529078 on Build GRCh38
rs746029215 Chr.19: 45529011-45529011 on Build GRCh38
rs749184660 Chr.19: 45529212-45529212 on Build GRCh38
rs770344909 Chr.19: 45528983-45528983 on Build GRCh38
rs535476484 Chr.19: 45529193-45529193 on Build GRCh38
rs959704225 Chr.19: 45528979-45528979 on Build GRCh38
rs566450630 Chr.19: 45529185-45529185 on Build GRCh38
rs942164972 Chr.19: 45528865-45528865 on Build GRCh38
rs376630127 Chr.19: 45529145-45529145 on Build GRCh38
rs922247029 Chr.19: 45528823-45528823 on Build GRCh38
rs771753477 Chr.19: 45529234-45529234 on Build GRCh38
rs898210506 Chr.19: 45528870-45528870 on Build GRCh38
rs190812374 Chr.19: 45529054-45529054 on Build GRCh38
rs750612755 Chr.19: 45529120-45529120 on Build GRCh38
rs71338779 Chr.19: 45528825-45528826 on Build GRCh38
rs757418839 Chr.19: 45529095-45529095 on Build GRCh38
rs749610366 Chr.19: 45528964-45528964 on Build GRCh38
rs374175877 Chr.19: 45529178-45529178 on Build GRCh38
rs185891858 Chr.19: 45528990-45528990 on Build GRCh38
rs568889742 Chr.19: 45529292-45529292 on Build GRCh38
rs547349748 Chr.19: 45529139-45529139 on Build GRCh38
rs781207627 Chr.19: 45529041-45529041 on Build GRCh38
rs535182496 Chr.19: 45528825-45528825 on Build GRCh38
rs575339012 Chr.19: 45528846-45528846 on Build GRCh38
rs1035608885 Chr.19: 45528807-45528807 on Build GRCh38
rs755084544 Chr.19: 45529329-45529331 on Build GRCh38
rs982800469 Chr.19: 45528950-45528950 on Build GRCh38
rs895744907 Chr.19: 45529112-45529112 on Build GRCh38
rs976398777 Chr.19: 45528808-45528808 on Build GRCh38
rs764652387 Chr.19: 45529182-45529182 on Build GRCh38
rs773719228 Chr.19: 45529066-45529066 on Build GRCh38
rs555489004 Chr.19: 45528835-45528835 on Build GRCh38
rs1025020582 Chr.19: 45529274-45529274 on Build GRCh38
rs761140317 Chr.19: 45529177-45529177 on Build GRCh38
rs756103311 Chr.19: 45529204-45529204 on Build GRCh38
rs745514950 Chr.19: 45529219-45529219 on Build GRCh38
rs917904249 Chr.19: 45528991-45528991 on Build GRCh38
rs1057427467 Chr.19: 45529096-45529096 on Build GRCh38
rs759025249 Chr.19: 45529074-45529074 on Build GRCh38
rs544356178 Chr.19: 45528859-45528859 on Build GRCh38
rs996553897 Chr.19: 45528891-45528891 on Build GRCh38
rs777706172 Chr.19: 45529209-45529209 on Build GRCh38
rs768465514 Chr.19: 45529038-45529038 on Build GRCh38
rs748857760 Chr.19: 45529062-45529062 on Build GRCh38
rs201078416 Chr.19: 45529113-45529113 on Build GRCh38
rs968455356 Chr.19: 45528848-45528848 on Build GRCh38
rs761195604 Chr.19: 45529083-45529083 on Build GRCh38
rs577488389 Chr.19: 45528895-45528895 on Build GRCh38
rs777702532 Chr.19: 45529143-45529143 on Build GRCh38
rs942215764 Chr.19: 45529055-45529055 on Build GRCh38
rs780299639 Chr.19: 45529154-45529154 on Build GRCh38
rs778741761 Chr.19: 45529299-45529299 on Build GRCh38
rs758510921 Chr.19: 45529124-45529124 on Build GRCh38
rs768169499 Chr.19: 45529245-45529245 on Build GRCh38
rs559307674 Chr.19: 45528936-45528936 on Build GRCh38
rs902420776 Chr.19: 45529167-45529167 on Build GRCh38
rs769663941 Chr.19: 45529043-45529043 on Build GRCh38
rs753909971 Chr.19: 45529243-45529244 on Build GRCh38
rs532551321 Chr.19: 45529290-45529290 on Build GRCh38
rs951611935 Chr.19: 45529281-45529281 on Build GRCh38
rs541954840 Chr.19: 45528984-45528984 on Build GRCh38
rs753763361 Chr.19: 45529295-45529295 on Build GRCh38
rs764421231 Chr.19: 45529084-45529084 on Build GRCh38
rs748075455 Chr.19: 45529140-45529140 on Build GRCh38
rs201888844 Chr.19: 45529183-45529183 on Build GRCh38
rs909845901 Chr.19: 45528987-45528987 on Build GRCh38
rs1037820743 Chr.19: 45529068-45529068 on Build GRCh38
rs751841657 Chr.19: 45529285-45529285 on Build GRCh38
rs751753401 Chr.19: 45529203-45529203 on Build GRCh38
rs777155225 Chr.19: 45529253-45529253 on Build GRCh38
rs758033801 Chr.19: 45529322-45529322 on Build GRCh38
rs978439759 Chr.19: 45528853-45528853 on Build GRCh38
rs766762022 Chr.19: 45529283-45529283 on Build GRCh38
rs759936639 Chr.19: 45528928-45528928 on Build GRCh38
rs763313333 Chr.19: 45529014-45529014 on Build GRCh38
rs770679537 Chr.19: 45529064-45529064 on Build GRCh38
rs530916858 Chr.19: 45529042-45529042 on Build GRCh38
rs773488519 Chr.19: 45529260-45529260 on Build GRCh38
rs756360957 Chr.19: 45529062-45529063 on Build GRCh38
rs991217178 Chr.19: 45528817-45528817 on Build GRCh38
rs763259776 Chr.19: 45529266-45529266 on Build GRCh38
rs771526677 Chr.19: 45529158-45529158 on Build GRCh38
rs750286310 Chr.19: 45529317-45529317 on Build GRCh38
rs1008138542 Chr.19: 45528918-45528918 on Build GRCh38
rs757040753 Chr.19: 45529216-45529216 on Build GRCh38
rs750607594 Chr.19: 45529186-45529186 on Build GRCh38
rs749162539 Chr.19: 45529144-45529144 on Build GRCh38
rs757195041 Chr.19: 45529297-45529297 on Build GRCh38
rs762180740 Chr.19: 45529184-45529184 on Build GRCh38
rs371097138 Chr.19: 45529171-45529171 on Build GRCh38
rs539903027 Chr.19: 45529141-45529141 on Build GRCh38
rs540153905 Chr.19: 45528916-45528916 on Build GRCh38
rs368970746 Chr.19: 45529080-45529080 on Build GRCh38
rs528100454 Chr.19: 45528912-45528912 on Build GRCh38
rs918200275 Chr.19: 45528824-45528824 on Build GRCh38
rs528516281 Chr.19: 45528943-45528943 on Build GRCh38
rs778599826 Chr.19: 45529218-45529218 on Build GRCh38

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