Product Details

Primer Sequences: Log in to view
Primer Chromosome Location: Chr.9: 32973487-32973716 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

Cosmic ID	Mutation	AA	Transcript Location
4373579	c.904A>G	p.R302G	Chr.9: 32973623-32973623 on Build GRCh38
5777778	c.903T>A	p.G301G	Chr.9: 32973624-32973624 on Build GRCh38
6842549	c.953G>T	p.R318L	Chr.9: 32973574-32973574 on Build GRCh38
1598250	c.953G>A	p.R318H	Chr.9: 32973574-32973574 on Build GRCh38
1598249	c.917G>A	p.R306Q	Chr.9: 32973610-32973610 on Build GRCh38
4832933	c.991C>G	p.Q331E	Chr.9: 32973536-32973536 on Build GRCh38
1183292	c.1000G>A	p.E334K	Chr.9: 32973527-32973527 on Build GRCh38
2772354	c.968A>G	p.Q323R	Chr.9: 32973559-32973559 on Build GRCh38
6115509	c.901G>C	p.G301R	Chr.9: 32973626-32973626 on Build GRCh38
5410988	c.915C>T	p.V305V	Chr.9: 32973612-32973612 on Build GRCh38
3906861	c.916C>T	p.R306*	Chr.9: 32973611-32973611 on Build GRCh38
6495727	c.961G>C	p.E321Q	Chr.9: 32973566-32973566 on Build GRCh38
6602525	c.923G>A	p.G308E	Chr.9: 32973604-32973604 on Build GRCh38
404972	c.1014delG	p.K338fs*>45	Chr.9: 32973513-32973513 on Build GRCh38

SNP Detail

SNP ID	Chromosome Location
rs1018257998	Chr.9: 32973628-32973628 on Build GRCh38
rs12001066	Chr.9: 32973598-32973598 on Build GRCh38
rs376734304	Chr.9: 32973569-32973569 on Build GRCh38
rs772656348	Chr.9: 32973610-32973610 on Build GRCh38
rs141493373	Chr.9: 32973556-32973556 on Build GRCh38
rs764599592	Chr.9: 32973624-32973624 on Build GRCh38
rs371292546	Chr.9: 32973574-32973574 on Build GRCh38
rs770727980	Chr.9: 32973600-32973600 on Build GRCh38
rs746541090	Chr.9: 32973611-32973611 on Build GRCh38
rs750406680	Chr.9: 32973641-32973641 on Build GRCh38
rs775949465	Chr.9: 32973516-32973516 on Build GRCh38
rs770357057	Chr.9: 32973612-32973612 on Build GRCh38
rs1005572979	Chr.9: 32973592-32973592 on Build GRCh38
rs776170265	Chr.9: 32973620-32973620 on Build GRCh38
rs1007288114	Chr.9: 32973667-32973667 on Build GRCh38
rs774598658	Chr.9: 32973626-32973626 on Build GRCh38
rs149867156	Chr.9: 32973644-32973644 on Build GRCh38
rs376003639	Chr.9: 32973627-32973627 on Build GRCh38
rs771607486	Chr.9: 32973606-32973606 on Build GRCh38
rs886044599	Chr.9: 32973538-32973538 on Build GRCh38
rs574404091	Chr.9: 32973629-32973629 on Build GRCh38
rs746837337	Chr.9: 32973588-32973588 on Build GRCh38
rs373961930	Chr.9: 32973575-32973575 on Build GRCh38
rs904293109	Chr.9: 32973654-32973654 on Build GRCh38
rs759989689	Chr.9: 32973655-32973655 on Build GRCh38
rs754791634	Chr.9: 32973581-32973581 on Build GRCh38
rs751746847	Chr.9: 32973547-32973547 on Build GRCh38
rs759723787	Chr.9: 32973547-32973548 on Build GRCh38
rs779001961	Chr.9: 32973542-32973542 on Build GRCh38
rs1047315004	Chr.9: 32973578-32973578 on Build GRCh38
rs374053126	Chr.9: 32973567-32973567 on Build GRCh38
rs763358461	Chr.9: 32973622-32973622 on Build GRCh38
rs1057490043	Chr.9: 32973571-32973571 on Build GRCh38
rs200782765	Chr.9: 32973511-32973511 on Build GRCh38
rs763444563	Chr.9: 32973531-32973531 on Build GRCh38
rs747796522	Chr.9: 32973602-32973602 on Build GRCh38
rs753823355	Chr.9: 32973661-32973661 on Build GRCh38
rs938970569	Chr.9: 32973566-32973566 on Build GRCh38
rs754738237	Chr.9: 32973673-32973673 on Build GRCh38
rs757349121	Chr.9: 32973553-32973553 on Build GRCh38

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