Product Details

Primer Sequences

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Primer Chromosome Location

Chr.9: 32984651-32985216 on Build GRCh38 View in UCSC browser

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

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Cosmic ID	Mutation	AA	Transcript Location
1598248	c.740G>A	p.R247Q	Chr.9: 32984661-32984661 on Build GRCh38
1598247	c.649G>A	p.A217T	Chr.9: 32984752-32984752 on Build GRCh38
5758525	c.598G>A	p.E200K	Chr.9: 32984845-32984845 on Build GRCh38
5935463	c.694G>A	p.E232K	Chr.9: 32984707-32984707 on Build GRCh38
3656894	c.623C>T	p.T208I	Chr.9: 32984778-32984778 on Build GRCh38
5935464	c.736G>A	p.E246K	Chr.9: 32984707-32984707 on Build GRCh38
753621	c.696G>T	p.R232S	Chr.9: 32984747-32984747 on Build GRCh38
7413158	c.624C>T	p.T208T	Chr.9: 32984777-32984777 on Build GRCh38
7413159	c.666C>T	p.T222T	Chr.9: 32984777-32984777 on Build GRCh38
1108279	c.691G>A	p.A231T	Chr.9: 32984752-32984752 on Build GRCh38
1108278	c.782G>A	p.R261Q	Chr.9: 32984661-32984661 on Build GRCh38
5638750	c.657A>G	p.E219E	Chr.9: 32984744-32984744 on Build GRCh38
5758524	c.556G>A	p.E186K	Chr.9: 32984845-32984845 on Build GRCh38
5638751	c.699A>G	p.E233E	Chr.9: 32984744-32984744 on Build GRCh38
6602528	c.733C>T	p.R245C	Chr.9: 32984668-32984668 on Build GRCh38
4152247	c.629C>G	p.P210R	Chr.9: 32984814-32984814 on Build GRCh38
6602531	c.618G>T	p.K206N	Chr.9: 32984825-32984825 on Build GRCh38
1151263	c.654G>T	p.R218S	Chr.9: 32984747-32984747 on Build GRCh38
6602529	c.775C>T	p.R259C	Chr.9: 32984668-32984668 on Build GRCh38
4152246	c.587C>G	p.P196R	Chr.9: 32984814-32984814 on Build GRCh38
6602530	c.576G>T	p.K192N	Chr.9: 32984825-32984825 on Build GRCh38
7308627	c.544G>C	p.V182L	Chr.9: 32984857-32984857 on Build GRCh38
7332857	c.744G>T	p.V248V	Chr.9: 32984699-32984699 on Build GRCh38
7308628	c.586G>C	p.V196L	Chr.9: 32984857-32984857 on Build GRCh38
7332856	c.702G>T	p.V234V	Chr.9: 32984699-32984699 on Build GRCh38
3906862	c.546T>C	p.V182V	Chr.9: 32984855-32984855 on Build GRCh38
3656895	c.665C>T	p.T222I	Chr.9: 32984778-32984778 on Build GRCh38
3906863	c.588T>C	p.V196V	Chr.9: 32984855-32984855 on Build GRCh38

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SNP Detail

SNP ID	Chromosome Location
rs974654484	Chr.9: 32984931-32984931 on Build GRCh38
rs267606665	Chr.9: 32984733-32984733 on Build GRCh38
rs187409187	Chr.9: 32985136-32985136 on Build GRCh38
rs371627062	Chr.9: 32984801-32984801 on Build GRCh38
rs77255748	Chr.9: 32985180-32985180 on Build GRCh38
rs918380080	Chr.9: 32985035-32985035 on Build GRCh38
rs775631019	Chr.9: 32984883-32984884 on Build GRCh38
rs770007531	Chr.9: 32984805-32984805 on Build GRCh38
rs587776593	Chr.9: 32984712-32984713 on Build GRCh38
rs538063585	Chr.9: 32984846-32984846 on Build GRCh38
rs909957944	Chr.9: 32984958-32984958 on Build GRCh38
rs902671997	Chr.9: 32985189-32985189 on Build GRCh38
rs551037218	Chr.9: 32985064-32985064 on Build GRCh38
rs536584919	Chr.9: 32984712-32984712 on Build GRCh38
rs896870874	Chr.9: 32984698-32984698 on Build GRCh38
rs927976202	Chr.9: 32985085-32985085 on Build GRCh38
rs946878921	Chr.9: 32985156-32985156 on Build GRCh38
rs748165574	Chr.9: 32984808-32984808 on Build GRCh38
rs754477154	Chr.9: 32984734-32984734 on Build GRCh38
rs749338153	Chr.9: 32984691-32984691 on Build GRCh38
rs931046693	Chr.9: 32985036-32985036 on Build GRCh38
rs121908133	Chr.9: 32984799-32984799 on Build GRCh38
rs887947393	Chr.9: 32985100-32985100 on Build GRCh38
rs764535828	Chr.9: 32984742-32984742 on Build GRCh38
rs1011050209	Chr.9: 32984715-32984715 on Build GRCh38
rs770579215	Chr.9: 32984842-32984842 on Build GRCh38
rs780139885	Chr.9: 32984790-32984790 on Build GRCh38
rs746140316	Chr.9: 32984675-32984675 on Build GRCh38
rs928515353	Chr.9: 32984946-32984946 on Build GRCh38
rs768678489	Chr.9: 32984692-32984692 on Build GRCh38
rs776169630	Chr.9: 32984856-32984856 on Build GRCh38
rs753323827	Chr.9: 32984728-32984728 on Build GRCh38
rs759201130	Chr.9: 32985072-32985072 on Build GRCh38
rs780304818	Chr.9: 32984908-32984908 on Build GRCh38
rs542599679	Chr.9: 32984924-32984924 on Build GRCh38
rs1028843564	Chr.9: 32984945-32984945 on Build GRCh38
rs760391639	Chr.9: 32984836-32984836 on Build GRCh38
rs778965012	Chr.9: 32984806-32984806 on Build GRCh38
rs943516244	Chr.9: 32985107-32985107 on Build GRCh38
rs761681320	Chr.9: 32984696-32984696 on Build GRCh38
rs750594349	Chr.9: 32984777-32984777 on Build GRCh38
rs563393452	Chr.9: 32984913-32984913 on Build GRCh38
rs938375491	Chr.9: 32984963-32984963 on Build GRCh38
rs895368192	Chr.9: 32985143-32985143 on Build GRCh38
rs371488744	Chr.9: 32984694-32984694 on Build GRCh38
rs1031784368	Chr.9: 32984853-32984853 on Build GRCh38
rs180809113	Chr.9: 32984711-32984711 on Build GRCh38
rs764765996	Chr.9: 32984872-32984872 on Build GRCh38
rs762362786	Chr.9: 32984887-32984887 on Build GRCh38
rs558899459	Chr.9: 32984950-32984950 on Build GRCh38
rs550948801	Chr.9: 32984670-32984670 on Build GRCh38
rs752108161	Chr.9: 32984746-32984746 on Build GRCh38
rs969845763	Chr.9: 32984918-32984918 on Build GRCh38
rs528093997	Chr.9: 32984970-32984970 on Build GRCh38
rs769756208	Chr.9: 32984678-32984678 on Build GRCh38
rs145708168	Chr.9: 32984879-32984879 on Build GRCh38
rs139358480	Chr.9: 32984864-32984864 on Build GRCh38
rs543606168	Chr.9: 32984909-32984909 on Build GRCh38
rs757586058	Chr.9: 32984760-32984760 on Build GRCh38
rs765961138	Chr.9: 32984721-32984721 on Build GRCh38
rs201736194	Chr.9: 32984861-32984861 on Build GRCh38
rs776075777	Chr.9: 32985021-32985021 on Build GRCh38
rs973216548	Chr.9: 32985053-32985053 on Build GRCh38
rs121908131	Chr.9: 32984784-32984784 on Build GRCh38
rs539119129	Chr.9: 32984815-32984815 on Build GRCh38
rs984605307	Chr.9: 32984954-32984954 on Build GRCh38
rs759572409	Chr.9: 32984784-32984784 on Build GRCh38
rs990022814	Chr.9: 32984867-32984867 on Build GRCh38
rs756462156	Chr.9: 32984904-32984904 on Build GRCh38
rs146506430	Chr.9: 32984816-32984816 on Build GRCh38
rs775694819	Chr.9: 32984682-32984682 on Build GRCh38
rs773181115	Chr.9: 32984768-32984768 on Build GRCh38
rs1017771187	Chr.9: 32984813-32984813 on Build GRCh38
rs750729390	Chr.9: 32984893-32984893 on Build GRCh38
rs150886026	Chr.9: 32984805-32984805 on Build GRCh38
rs573868749	Chr.9: 32984919-32984919 on Build GRCh38
rs1048096663	Chr.9: 32985092-32985092 on Build GRCh38
rs140355580	Chr.9: 32984783-32984783 on Build GRCh38
rs770840318	Chr.9: 32984885-32984885 on Build GRCh38
rs863223909	Chr.9: 32984676-32984676 on Build GRCh38

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