Product Details

Primer Sequences
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Primer Chromosome Location
Chr.19: 45529017-45529266 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
360853 c.535G>T p.E179* Chr.19: 45529064-45529064 on Build GRCh38
3535940 c.497G>A p.R166Q Chr.19: 45529102-45529102 on Build GRCh38
4642325 c.458G>A p.R153H Chr.19: 45529141-45529141 on Build GRCh38
3535939 c.533C>T p.S178F Chr.19: 45529066-45529066 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
rs750700198 Chr.19: 45529052-45529054 on Build GRCh38
rs942215764 Chr.19: 45529055-45529055 on Build GRCh38
rs777702532 Chr.19: 45529143-45529143 on Build GRCh38
rs746582143 Chr.19: 45529238-45529238 on Build GRCh38
rs201023208 Chr.19: 45529085-45529085 on Build GRCh38
rs780299639 Chr.19: 45529154-45529154 on Build GRCh38
rs758510921 Chr.19: 45529124-45529124 on Build GRCh38
rs768169499 Chr.19: 45529245-45529245 on Build GRCh38
rs375580763 Chr.19: 45529057-45529057 on Build GRCh38
rs902420776 Chr.19: 45529167-45529167 on Build GRCh38
rs964590346 Chr.19: 45529215-45529215 on Build GRCh38
rs769663941 Chr.19: 45529043-45529043 on Build GRCh38
rs767022079 Chr.19: 45529078-45529078 on Build GRCh38
rs753909971 Chr.19: 45529243-45529244 on Build GRCh38
rs749184660 Chr.19: 45529212-45529212 on Build GRCh38
rs535476484 Chr.19: 45529193-45529193 on Build GRCh38
rs566450630 Chr.19: 45529185-45529185 on Build GRCh38
rs376630127 Chr.19: 45529145-45529145 on Build GRCh38
rs748075455 Chr.19: 45529140-45529140 on Build GRCh38
rs764421231 Chr.19: 45529084-45529084 on Build GRCh38
rs771753477 Chr.19: 45529234-45529234 on Build GRCh38
rs190812374 Chr.19: 45529054-45529054 on Build GRCh38
rs750612755 Chr.19: 45529120-45529120 on Build GRCh38
rs201888844 Chr.19: 45529183-45529183 on Build GRCh38
rs757418839 Chr.19: 45529095-45529095 on Build GRCh38
rs1037820743 Chr.19: 45529068-45529068 on Build GRCh38
rs374175877 Chr.19: 45529178-45529178 on Build GRCh38
rs751753401 Chr.19: 45529203-45529203 on Build GRCh38
rs547349748 Chr.19: 45529139-45529139 on Build GRCh38
rs781207627 Chr.19: 45529041-45529041 on Build GRCh38
rs895744907 Chr.19: 45529112-45529112 on Build GRCh38
rs770679537 Chr.19: 45529064-45529064 on Build GRCh38
rs530916858 Chr.19: 45529042-45529042 on Build GRCh38
rs756360957 Chr.19: 45529062-45529063 on Build GRCh38
rs771526677 Chr.19: 45529158-45529158 on Build GRCh38
rs764652387 Chr.19: 45529182-45529182 on Build GRCh38
rs773719228 Chr.19: 45529066-45529066 on Build GRCh38
rs761140317 Chr.19: 45529177-45529177 on Build GRCh38
rs756103311 Chr.19: 45529204-45529204 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
rs762180740 Chr.19: 45529184-45529184 on Build GRCh38
rs745514950 Chr.19: 45529219-45529219 on Build GRCh38
rs1057427467 Chr.19: 45529096-45529096 on Build GRCh38
rs371097138 Chr.19: 45529171-45529171 on Build GRCh38
rs759025249 Chr.19: 45529074-45529074 on Build GRCh38
rs539903027 Chr.19: 45529141-45529141 on Build GRCh38
rs368970746 Chr.19: 45529080-45529080 on Build GRCh38
rs777706172 Chr.19: 45529209-45529209 on Build GRCh38
rs748857760 Chr.19: 45529062-45529062 on Build GRCh38
rs768465514 Chr.19: 45529038-45529038 on Build GRCh38
rs201078416 Chr.19: 45529113-45529113 on Build GRCh38
rs761195604 Chr.19: 45529083-45529083 on Build GRCh38
rs778599826 Chr.19: 45529218-45529218 on Build GRCh38

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