Product Details

Primer Sequences
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Primer Chromosome Location
Chr.19: 45529253-45529482 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
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
3104332 c.241G>A p.A81T Chr.19: 45529358-45529358 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
rs766762022 Chr.19: 45529283-45529283 on Build GRCh38
rs755084544 Chr.19: 45529329-45529331 on Build GRCh38
rs759523944 Chr.19: 45529381-45529381 on Build GRCh38
rs779625614 Chr.19: 45529334-45529334 on Build GRCh38
rs779350552 Chr.19: 45529378-45529378 on Build GRCh38
rs771423936 Chr.19: 45529369-45529369 on Build GRCh38
rs778741761 Chr.19: 45529299-45529299 on Build GRCh38
rs748633973 Chr.19: 45529405-45529423 on Build GRCh38
rs758125545 Chr.19: 45529416-45529416 on Build GRCh38
rs200304633 Chr.19: 45529358-45529358 on Build GRCh38
rs202205093 Chr.19: 45529341-45529341 on Build GRCh38
rs749841549 Chr.19: 45529441-45529441 on Build GRCh38
rs750286310 Chr.19: 45529317-45529317 on Build GRCh38
rs532551321 Chr.19: 45529290-45529290 on Build GRCh38
rs747666099 Chr.19: 45529431-45529431 on Build GRCh38
rs763348163 Chr.19: 45529367-45529367 on Build GRCh38
rs909917563 Chr.19: 45529337-45529337 on Build GRCh38
rs1025020582 Chr.19: 45529274-45529274 on Build GRCh38
rs951611935 Chr.19: 45529281-45529281 on Build GRCh38
rs939401181 Chr.19: 45529370-45529370 on Build GRCh38
rs753763361 Chr.19: 45529295-45529295 on Build GRCh38
rs141142300 Chr.19: 45529421-45529421 on Build GRCh38
rs774673258 Chr.19: 45529372-45529372 on Build GRCh38
rs755659368 Chr.19: 45529436-45529436 on Build GRCh38
rs757195041 Chr.19: 45529297-45529297 on Build GRCh38
rs779844856 Chr.19: 45529419-45529419 on Build GRCh38
rs780614894 Chr.19: 45529343-45529343 on Build GRCh38
rs761801627 Chr.19: 45529360-45529360 on Build GRCh38
rs780748496 Chr.19: 45529425-45529425 on Build GRCh38
rs765146461 Chr.19: 45529395-45529395 on Build GRCh38
rs759861826 Chr.19: 45529382-45529382 on Build GRCh38
rs140959406 Chr.19: 45529415-45529415 on Build GRCh38
rs754626320 Chr.19: 45529423-45529423 on Build GRCh38
rs751841657 Chr.19: 45529285-45529285 on Build GRCh38
rs748656480 Chr.19: 45529357-45529357 on Build GRCh38
rs568889742 Chr.19: 45529292-45529292 on Build GRCh38
rs771376809 Chr.19: 45529449-45529449 on Build GRCh38
rs761806800 Chr.19: 45529391-45529391 on Build GRCh38
rs758033801 Chr.19: 45529322-45529322 on Build GRCh38
rs746670368 Chr.19: 45529340-45529340 on Build GRCh38

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