Product Details

Primer Sequences
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Primer Chromosome Location
Chr.9: 32987987-32988483 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
APTX
Entrez Gene ID
54840
Gene Name
aprataxin
Gene Aliases
AOA, AOA1, AXA1, EAOH, EOAHA, FHA-HIT
UniGene
Hs.20158
Gene Chromosome Location
Chr.9: 32883872-33025129 on Build GRCh38
Transcripts
NM_001195248.1 NM_001195249.1 NM_001195250.1 NM_001195251.1 NM_001195252.1 NM_001195254.1 NM_175069.2 NM_175073.2 NR_036576.1 NR_036577.1 NR_036578.1 NR_036579.1 XM_006716791.3 XM_006716792.2 XM_011517938.1 XM_011517939.2 XM_017014831.1 XM_017014832.1 XM_017014833.1 XM_017014834.1 XM_017014835.1 XM_017014836.1 XM_017014837.1 XM_017014838.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
3996514 c.211A>T p.K71* Chr.9: 32988094-32988094 on Build GRCh38
2772394 c.212A>G p.K71R Chr.9: 32988093-32988093 on Build GRCh38
1462040 c.176A>C p.K59T Chr.9: 32988087-32988087 on Build GRCh38
2772393 c.170A>G p.K57R Chr.9: 32988093-32988093 on Build GRCh38
1245250 c.168C>T p.V56V Chr.9: 32988095-32988095 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs1057519198 Chr.9: 32988099-32988099 on Build GRCh38
rs755083054 Chr.9: 32988113-32988114 on Build GRCh38
rs765752653 Chr.9: 32988062-32988062 on Build GRCh38
rs141053938 Chr.9: 32988352-32988352 on Build GRCh38
rs79744073 Chr.9: 32988048-32988048 on Build GRCh38
rs556048747 Chr.9: 32988049-32988049 on Build GRCh38
rs570123260 Chr.9: 32988429-32988429 on Build GRCh38
rs17226291 Chr.9: 32988187-32988187 on Build GRCh38
rs192017512 Chr.9: 32988401-32988401 on Build GRCh38
rs368922494 Chr.9: 32988157-32988157 on Build GRCh38
rs1008736950 Chr.9: 32988024-32988024 on Build GRCh38
rs192342726 Chr.9: 32988175-32988175 on Build GRCh38
rs1888867 Chr.9: 32988405-32988405 on Build GRCh38
rs748761458 Chr.9: 32988288-32988288 on Build GRCh38
rs377603034 Chr.9: 32988050-32988050 on Build GRCh38
rs995713662 Chr.9: 32988404-32988404 on Build GRCh38
rs764458907 Chr.9: 32988201-32988201 on Build GRCh38
rs917279247 Chr.9: 32988430-32988430 on Build GRCh38
rs200939883 Chr.9: 32988163-32988163 on Build GRCh38
rs763391606 Chr.9: 32988179-32988179 on Build GRCh38
rs369431727 Chr.9: 32988115-32988115 on Build GRCh38
rs188796889 Chr.9: 32988303-32988303 on Build GRCh38
rs890777738 Chr.9: 32988346-32988346 on Build GRCh38
rs1049976978 Chr.9: 32988276-32988276 on Build GRCh38
rs983523238 Chr.9: 32988427-32988427 on Build GRCh38
rs1000682699 Chr.9: 32988059-32988059 on Build GRCh38
rs10971271 Chr.9: 32988457-32988457 on Build GRCh38
rs1009936127 Chr.9: 32988301-32988301 on Build GRCh38
rs758718457 Chr.9: 32988164-32988165 on Build GRCh38
rs747872887 Chr.9: 32988438-32988438 on Build GRCh38
rs778102109 Chr.9: 32988179-32988180 on Build GRCh38
rs780105237 Chr.9: 32988131-32988131 on Build GRCh38
rs940223750 Chr.9: 32988198-32988198 on Build GRCh38
rs577830048 Chr.9: 32988415-32988415 on Build GRCh38
rs749913379 Chr.9: 32988051-32988051 on Build GRCh38
rs113391831 Chr.9: 32988141-32988141 on Build GRCh38
rs74922775 Chr.9: 32988343-32988343 on Build GRCh38
rs184407340 Chr.9: 32988188-32988188 on Build GRCh38
rs572063713 Chr.9: 32988093-32988093 on Build GRCh38
rs1038496817 Chr.9: 32988218-32988218 on Build GRCh38
rs779023417 Chr.9: 32988162-32988163 on Build GRCh38
rs955329812 Chr.9: 32988067-32988067 on Build GRCh38
rs375978921 Chr.9: 32988140-32988140 on Build GRCh38
rs752912612 Chr.9: 32988164-32988164 on Build GRCh38
rs757431868 Chr.9: 32988103-32988103 on Build GRCh38
rs200146043 Chr.9: 32988162-32988162 on Build GRCh38
rs927505570 Chr.9: 32988458-32988458 on Build GRCh38
rs772793361 Chr.9: 32988145-32988145 on Build GRCh38
rs751955477 Chr.9: 32988236-32988236 on Build GRCh38
rs1000733170 Chr.9: 32988420-32988420 on Build GRCh38
rs769809499 Chr.9: 32988121-32988121 on Build GRCh38
rs950812117 Chr.9: 32988422-32988422 on Build GRCh38
rs932899788 Chr.9: 32988239-32988239 on Build GRCh38
rs4324990 Chr.9: 32988310-32988310 on Build GRCh38
rs548155770 Chr.9: 32988190-32988190 on Build GRCh38
rs745911325 Chr.9: 32988118-32988118 on Build GRCh38
rs533248843 Chr.9: 32988164-32988164 on Build GRCh38
rs771709792 Chr.9: 32988143-32988143 on Build GRCh38
rs985334100 Chr.9: 32988069-32988069 on Build GRCh38
rs767459701 Chr.9: 32988044-32988046 on Build GRCh38
rs760129710 Chr.9: 32988058-32988058 on Build GRCh38
rs959194649 Chr.9: 32988443-32988443 on Build GRCh38
rs891505742 Chr.9: 32988250-32988250 on Build GRCh38
rs750499052 Chr.9: 32988043-32988044 on Build GRCh38
rs758759074 Chr.9: 32988085-32988085 on Build GRCh38
rs751933830 Chr.9: 32988094-32988094 on Build GRCh38
rs761547802 Chr.9: 32988142-32988142 on Build GRCh38
rs753242838 Chr.9: 32988070-32988070 on Build GRCh38
rs568365108 Chr.9: 32988222-32988222 on Build GRCh38
rs1018584224 Chr.9: 32988368-32988368 on Build GRCh38

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