Product Details

Primer Sequences

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Primer Chromosome Location

Chr.20: 21706512-21706785 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

PAX1

Entrez Gene ID

5075

Gene Name

paired box 1

Gene Aliases

HUP48, OFC2

UniGene

Hs.122310

Gene Chromosome Location

Chr.20: 21705659-21718486 on Build GRCh38

Transcripts

NM_001257096.1 NM_006192.4

Cosmic Detail

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Cosmic ID	Mutation	AA	Transcript Location
1239708	c.150C>T	p.H50H	Chr.20: 21706583-21706583 on Build GRCh38
1683278	c.609_610insA	p.G204fs*4	Chr.20: 21706760-21706761 on Build GRCh38
6738150	c.515T>C	p.V172A	Chr.20: 21706666-21706666 on Build GRCh38
1260979	c.309C>T	p.R103R	Chr.20: 21706742-21706742 on Build GRCh38
1219358	c.496G>A	p.G166R	Chr.20: 21706647-21706647 on Build GRCh38
2705798	c.143T>C	p.V48A	Chr.20: 21706576-21706576 on Build GRCh38
2705806	c.496delG	p.S168fs*47	Chr.20: 21706647-21706647 on Build GRCh38
6738157	c.308G>A	p.R103H	Chr.20: 21706741-21706741 on Build GRCh38
7223945	c.611G>T	p.G204V	Chr.20: 21706762-21706762 on Build GRCh38
7223944	c.329G>T	p.G110V	Chr.20: 21706762-21706762 on Build GRCh38
1025126	c.573C>A	p.I191I	Chr.20: 21706724-21706724 on Build GRCh38
5536499	c.241C>T	p.P81S	Chr.20: 21706674-21706674 on Build GRCh38
6738142	c.472G>A	p.G158S	Chr.20: 21706623-21706623 on Build GRCh38
356942	c.229C>T	p.R77C	Chr.20: 21706662-21706662 on Build GRCh38
7425219	c.425T>A	p.V142E	Chr.20: 21706576-21706576 on Build GRCh38
7425218	c.143T>A	p.V48E	Chr.20: 21706576-21706576 on Build GRCh38
1410725	c.424G>A	p.V142I	Chr.20: 21706575-21706575 on Build GRCh38
1025127	c.291C>A	p.I97I	Chr.20: 21706724-21706724 on Build GRCh38
1615394	c.300G>C	p.W100C	Chr.20: 21706733-21706733 on Build GRCh38
6563308	c.83G>A	p.R28H	Chr.20: 21706516-21706516 on Build GRCh38
345116	c.300_301GG>TT	p.W100>?	Chr.20: 21706733-21706734 on Build GRCh38
7292036	c.246C>T	p.N82N	Chr.20: 21706679-21706679 on Build GRCh38
7292037	c.528C>T	p.N176N	Chr.20: 21706679-21706679 on Build GRCh38
1260978	c.591C>T	p.R197R	Chr.20: 21706742-21706742 on Build GRCh38
6738166	c.589C>T	p.R197C	Chr.20: 21706740-21706740 on Build GRCh38
1410724	c.131G>A	p.R44Q	Chr.20: 21706564-21706564 on Build GRCh38
5973972	c.527A>G	p.N176S	Chr.20: 21706678-21706678 on Build GRCh38
3544644	c.466G>A	p.E156K	Chr.20: 21706617-21706617 on Build GRCh38
6738173	c.173C>T	p.A58V	Chr.20: 21706606-21706606 on Build GRCh38
4097084	c.189C>T	p.T63T	Chr.20: 21706622-21706622 on Build GRCh38
5597317	c.139C>T	p.R47C	Chr.20: 21706572-21706572 on Build GRCh38
1219359	c.214G>A	p.G72R	Chr.20: 21706647-21706647 on Build GRCh38
242590	c.328G>A	p.G110S	Chr.20: 21706761-21706761 on Build GRCh38
2705797	c.425T>C	p.V142A	Chr.20: 21706576-21706576 on Build GRCh38
3707646	c.128G>T	p.S43I	Chr.20: 21706561-21706561 on Build GRCh38
1219356	c.487G>C	p.G163R	Chr.20: 21706638-21706638 on Build GRCh38
6738156	c.590G>A	p.R197H	Chr.20: 21706741-21706741 on Build GRCh38
6738155	c.288C>A	p.G96G	Chr.20: 21706721-21706721 on Build GRCh38
1025124	c.433G>A	p.G145S	Chr.20: 21706584-21706584 on Build GRCh38
7170922	c.111C>T	p.I37I	Chr.20: 21706544-21706544 on Build GRCh38
7170923	c.393C>T	p.I131I	Chr.20: 21706544-21706544 on Build GRCh38
1410723	c.413G>A	p.R138Q	Chr.20: 21706564-21706564 on Build GRCh38
6563307	c.365G>A	p.R122H	Chr.20: 21706516-21706516 on Build GRCh38
341865	c.324C>A	p.A108A	Chr.20: 21706757-21706757 on Build GRCh38
6738179	c.113G>A	p.R38Q	Chr.20: 21706546-21706546 on Build GRCh38
4501424	c.588C>T	p.I196I	Chr.20: 21706739-21706739 on Build GRCh38
141595	c.242C>T	p.P81L	Chr.20: 21706675-21706675 on Build GRCh38
443537	c.231C>A	p.R77R	Chr.20: 21706664-21706664 on Build GRCh38
1025125	c.151G>A	p.G51S	Chr.20: 21706584-21706584 on Build GRCh38
1260985	c.190G>T	p.G64C	Chr.20: 21706623-21706623 on Build GRCh38
137203	c.184G>A	p.E62K	Chr.20: 21706617-21706617 on Build GRCh38
5775306	c.325G>T	p.D109Y	Chr.20: 21706758-21706758 on Build GRCh38
1260984	c.472G>T	p.G158C	Chr.20: 21706623-21706623 on Build GRCh38
322490	c.199C>G	p.L67V	Chr.20: 21706632-21706632 on Build GRCh38
6738172	c.455C>T	p.A152V	Chr.20: 21706606-21706606 on Build GRCh38
443536	c.513C>A	p.R171R	Chr.20: 21706664-21706664 on Build GRCh38
7382497	c.488G>T	p.G163V	Chr.20: 21706639-21706639 on Build GRCh38
7382496	c.206G>T	p.G69V	Chr.20: 21706639-21706639 on Build GRCh38
6738153	c.205G>A	p.G69R	Chr.20: 21706638-21706638 on Build GRCh38
6738154	c.570C>A	p.G190G	Chr.20: 21706721-21706721 on Build GRCh38
4097085	c.611G>A	p.G204D	Chr.20: 21706762-21706762 on Build GRCh38
1219357	c.205G>C	p.G69R	Chr.20: 21706638-21706638 on Build GRCh38
6159630	c.399C>A	p.P133P	Chr.20: 21706550-21706550 on Build GRCh38
4501425	c.306C>T	p.I102I	Chr.20: 21706739-21706739 on Build GRCh38
5536498	c.523C>T	p.P175S	Chr.20: 21706674-21706674 on Build GRCh38
1025122	c.417G>T	p.Q139H	Chr.20: 21706568-21706568 on Build GRCh38
6159631	c.117C>A	p.P39P	Chr.20: 21706550-21706550 on Build GRCh38
1683279	c.327_328insA	p.G110fs*4	Chr.20: 21706760-21706761 on Build GRCh38
1410728	c.218G>A	p.G73E	Chr.20: 21706651-21706651 on Build GRCh38
3544648	c.239C>T	p.T80I	Chr.20: 21706672-21706672 on Build GRCh38
6738127	c.325G>A	p.D109N	Chr.20: 21706758-21706758 on Build GRCh38
3707645	c.410G>T	p.S137I	Chr.20: 21706561-21706561 on Build GRCh38
7116195	c.199C>A	p.L67M	Chr.20: 21706632-21706632 on Build GRCh38
7158187	c.511C>T	p.R171C	Chr.20: 21706662-21706662 on Build GRCh38
1025123	c.135G>T	p.Q45H	Chr.20: 21706568-21706568 on Build GRCh38
5973973	c.245A>G	p.N82S	Chr.20: 21706678-21706678 on Build GRCh38
3389628	c.366C>A	p.R122R	Chr.20: 21706517-21706517 on Build GRCh38
322489	c.175C>A	p.R59S	Chr.20: 21706608-21706608 on Build GRCh38
6558605	c.323C>T	p.A108V	Chr.20: 21706756-21706756 on Build GRCh38
3544647	c.521C>T	p.T174I	Chr.20: 21706672-21706672 on Build GRCh38
6738178	c.395G>A	p.R132Q	Chr.20: 21706546-21706546 on Build GRCh38
6738177	c.247G>A	p.V83M	Chr.20: 21706680-21706680 on Build GRCh38
6738152	c.487G>A	p.G163R	Chr.20: 21706638-21706638 on Build GRCh38
6738151	c.233T>C	p.V78A	Chr.20: 21706666-21706666 on Build GRCh38
4097083	c.471C>T	p.T157T	Chr.20: 21706622-21706622 on Build GRCh38
6241943	c.491C>A	p.A164D	Chr.20: 21706642-21706642 on Build GRCh38
6200953	c.94C>T	p.L32L	Chr.20: 21706527-21706527 on Build GRCh38
6241944	c.209C>A	p.A70D	Chr.20: 21706642-21706642 on Build GRCh38
2705807	c.214delG	p.S74fs*47	Chr.20: 21706647-21706647 on Build GRCh38
7226496	c.273G>A	p.K91K	Chr.20: 21706706-21706706 on Build GRCh38
7226497	c.555G>A	p.K185K	Chr.20: 21706706-21706706 on Build GRCh38
6159628	c.562G>T	p.D188Y	Chr.20: 21706713-21706713 on Build GRCh38
1615393	c.582G>C	p.W194C	Chr.20: 21706733-21706733 on Build GRCh38
6738143	c.190G>A	p.G64S	Chr.20: 21706623-21706623 on Build GRCh38
5597316	c.421C>T	p.R141C	Chr.20: 21706572-21706572 on Build GRCh38
6159629	c.280G>T	p.D94Y	Chr.20: 21706713-21706713 on Build GRCh38
6200952	c.376C>T	p.L126L	Chr.20: 21706527-21706527 on Build GRCh38
4918146	c.203C>T	p.P68L	Chr.20: 21706636-21706636 on Build GRCh38
1410726	c.142G>A	p.V48I	Chr.20: 21706575-21706575 on Build GRCh38
3389629	c.84C>A	p.R28R	Chr.20: 21706517-21706517 on Build GRCh38
7116196	c.481C>A	p.L161M	Chr.20: 21706632-21706632 on Build GRCh38
1410727	c.500G>A	p.G167E	Chr.20: 21706651-21706651 on Build GRCh38
6738126	c.607G>A	p.D203N	Chr.20: 21706758-21706758 on Build GRCh38
3544646	c.219G>A	p.G73G	Chr.20: 21706652-21706652 on Build GRCh38
6738167	c.307C>T	p.R103C	Chr.20: 21706740-21706740 on Build GRCh38
1260981	c.140G>A	p.R47H	Chr.20: 21706573-21706573 on Build GRCh38
5775305	c.607G>T	p.D203Y	Chr.20: 21706758-21706758 on Build GRCh38
1239707	c.432C>T	p.H144H	Chr.20: 21706583-21706583 on Build GRCh38
6738176	c.529G>A	p.V177M	Chr.20: 21706680-21706680 on Build GRCh38
4097086	c.329G>A	p.G110D	Chr.20: 21706762-21706762 on Build GRCh38
7382501	c.412C>T	p.R138W	Chr.20: 21706563-21706563 on Build GRCh38
7382500	c.130C>T	p.R44W	Chr.20: 21706563-21706563 on Build GRCh38
4918145	c.485C>T	p.P162L	Chr.20: 21706636-21706636 on Build GRCh38
1260980	c.422G>A	p.R141H	Chr.20: 21706573-21706573 on Build GRCh38
6558604	c.605C>T	p.A202V	Chr.20: 21706756-21706756 on Build GRCh38
3544645	c.501G>A	p.G167G	Chr.20: 21706652-21706652 on Build GRCh38

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SNP Detail

SNP ID	Chromosome Location
rs767074372	Chr.20: 21706746-21706746 on Build GRCh38
rs765104212	Chr.20: 21706616-21706616 on Build GRCh38
rs771074218	Chr.20: 21706679-21706679 on Build GRCh38
rs755246726	Chr.20: 21706664-21706664 on Build GRCh38
rs978424719	Chr.20: 21706571-21706571 on Build GRCh38
rs17861030	Chr.20: 21706667-21706667 on Build GRCh38
rs751544378	Chr.20: 21706739-21706739 on Build GRCh38
rs751100994	Chr.20: 21706646-21706646 on Build GRCh38
rs200848720	Chr.20: 21706697-21706697 on Build GRCh38
rs966417932	Chr.20: 21706625-21706625 on Build GRCh38
rs17861031	Chr.20: 21706706-21706706 on Build GRCh38
rs779633330	Chr.20: 21706763-21706763 on Build GRCh38
rs986166712	Chr.20: 21706572-21706572 on Build GRCh38
rs774678931	Chr.20: 21706545-21706545 on Build GRCh38
rs367842641	Chr.20: 21706612-21706612 on Build GRCh38
rs773278440	Chr.20: 21706565-21706565 on Build GRCh38
rs772556134	Chr.20: 21706672-21706672 on Build GRCh38
rs758378508	Chr.20: 21706622-21706622 on Build GRCh38
rs766533910	Chr.20: 21706577-21706577 on Build GRCh38
rs752485368	Chr.20: 21706617-21706617 on Build GRCh38
rs764064253	Chr.20: 21706720-21706720 on Build GRCh38
rs554946889	Chr.20: 21706535-21706535 on Build GRCh38
rs968597139	Chr.20: 21706569-21706569 on Build GRCh38
rs866146293	Chr.20: 21706674-21706674 on Build GRCh38
rs977462944	Chr.20: 21706629-21706629 on Build GRCh38
rs947891047	Chr.20: 21706721-21706721 on Build GRCh38
rs745561833	Chr.20: 21706662-21706662 on Build GRCh38
rs746556917	Chr.20: 21706531-21706531 on Build GRCh38
rs528193191	Chr.20: 21706730-21706730 on Build GRCh38
rs770700593	Chr.20: 21706532-21706532 on Build GRCh38
rs748709357	Chr.20: 21706562-21706562 on Build GRCh38
rs540296842	Chr.20: 21706648-21706648 on Build GRCh38
rs762899451	Chr.20: 21706712-21706712 on Build GRCh38
rs779310836	Chr.20: 21706665-21706665 on Build GRCh38
rs749553891	Chr.20: 21706536-21706536 on Build GRCh38
rs749947327	Chr.20: 21706747-21706747 on Build GRCh38
rs747027543	Chr.20: 21706678-21706678 on Build GRCh38
rs760806868	Chr.20: 21706568-21706568 on Build GRCh38
rs769065732	Chr.20: 21706541-21706541 on Build GRCh38
rs759783501	Chr.20: 21706695-21706695 on Build GRCh38
rs867926385	Chr.20: 21706675-21706675 on Build GRCh38
rs772611005	Chr.20: 21706563-21706563 on Build GRCh38
rs755790020	Chr.20: 21706757-21706757 on Build GRCh38
rs776918101	Chr.20: 21706610-21706610 on Build GRCh38
rs199752989	Chr.20: 21706637-21706637 on Build GRCh38
rs868358860	Chr.20: 21706698-21706698 on Build GRCh38
rs773726454	Chr.20: 21706673-21706673 on Build GRCh38

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