Product Details

Primer Sequences

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Primer Chromosome Location

Chr.5: 78038799-78039295 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

AP3B1

Entrez Gene ID

8546

Gene Name

adaptor related protein complex 3 beta 1 subunit

Gene Aliases

ADTB3, ADTB3A, HPS, HPS2, PE

UniGene

Hs.532091

Gene Chromosome Location

Chr.5: 78002326-78294755 on Build GRCh38

Transcripts

NM_001271769.1 NM_003664.4 XM_005248618.3 XM_017010001.1

Cosmic Detail

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Cosmic ID	Mutation	AA	Transcript Location
256323	c.2734C>T	p.R912*	Chr.5: 78039118-78039118 on Build GRCh38
6435361	c.2759G>A	p.G920E	Chr.5: 78039093-78039093 on Build GRCh38
272344	c.2762A>G	p.E921G	Chr.5: 78039090-78039090 on Build GRCh38
5918576	c.2773C>T	p.P925S	Chr.5: 78039079-78039079 on Build GRCh38
7199774	c.2784G>A	p.M928I	Chr.5: 78039068-78039068 on Build GRCh38
1183130	c.2650G>A	p.A884T	Chr.5: 78039202-78039202 on Build GRCh38
5918577	c.2803C>G	p.P935A	Chr.5: 78039049-78039049 on Build GRCh38
6529542	c.2587C>G	p.P863A	Chr.5: 78039265-78039265 on Build GRCh38
3074353	c.2609C>T	p.T870I	Chr.5: 78039243-78039243 on Build GRCh38
7309066	c.2809+10_2809+13delAATT	p.?	Chr.5: 78039030-78039033 on Build GRCh38
7327885	c.2781C>A	p.G927G	Chr.5: 78039071-78039071 on Build GRCh38
3856397	c.2791C>T	p.H931Y	Chr.5: 78039061-78039061 on Build GRCh38
1438695	c.2735G>A	p.R912Q	Chr.5: 78039117-78039117 on Build GRCh38
3856398	c.2689G>C	p.D897H	Chr.5: 78039163-78039163 on Build GRCh38
335223	c.2578-2A>T	p.?	Chr.5: 78039276-78039276 on Build GRCh38
739173	c.2760G>A	p.G920G	Chr.5: 78039092-78039092 on Build GRCh38
739176	c.2778A>T	p.I926I	Chr.5: 78039074-78039074 on Build GRCh38
1671706	c.2746A>C	p.N916H	Chr.5: 78039106-78039106 on Build GRCh38
3920361	c.2604G>A	p.T868T	Chr.5: 78039248-78039248 on Build GRCh38
4612938	c.2799delT	p.F933fs*4	Chr.5: 78039053-78039053 on Build GRCh38
739174	c.2777T>A	p.I926K	Chr.5: 78039075-78039075 on Build GRCh38
1070339	c.2626C>T	p.R876*	Chr.5: 78039226-78039226 on Build GRCh38
3927493	c.2737A>G	p.K913E	Chr.5: 78039115-78039115 on Build GRCh38
5587183	c.2648C>A	p.A883D	Chr.5: 78039204-78039204 on Build GRCh38
6407652	c.2794G>T	p.V932F	Chr.5: 78039058-78039058 on Build GRCh38
196615	c.2769delA	p.K923fs*4	Chr.5: 78039083-78039083 on Build GRCh38
6398322	c.2761G>A	p.E921K	Chr.5: 78039091-78039091 on Build GRCh38
3618006	c.2809+1G>A	p.?	Chr.5: 78039042-78039042 on Build GRCh38

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SNP Detail

SNP ID	Chromosome Location
rs1024013390	Chr.5: 78038835-78038835 on Build GRCh38
rs747843144	Chr.5: 78039039-78039039 on Build GRCh38
rs574048736	Chr.5: 78039088-78039088 on Build GRCh38
rs776019289	Chr.5: 78038935-78038935 on Build GRCh38
rs558325834	Chr.5: 78039076-78039076 on Build GRCh38
rs946033247	Chr.5: 78038940-78038940 on Build GRCh38
rs375205110	Chr.5: 78039200-78039200 on Build GRCh38
rs1003245963	Chr.5: 78039010-78039010 on Build GRCh38
rs752519227	Chr.5: 78039118-78039118 on Build GRCh38
rs773298750	Chr.5: 78039226-78039226 on Build GRCh38
rs746532723	Chr.5: 78039049-78039049 on Build GRCh38
rs755942138	Chr.5: 78039017-78039017 on Build GRCh38
rs578144417	Chr.5: 78039079-78039079 on Build GRCh38
rs869312835	Chr.5: 78039150-78039150 on Build GRCh38
rs753810749	Chr.5: 78039090-78039090 on Build GRCh38
rs866933996	Chr.5: 78039216-78039216 on Build GRCh38
rs139344924	Chr.5: 78039191-78039191 on Build GRCh38
rs753619790	Chr.5: 78039019-78039019 on Build GRCh38
rs866308304	Chr.5: 78039072-78039072 on Build GRCh38
rs780503803	Chr.5: 78039181-78039181 on Build GRCh38
rs771283896	Chr.5: 78039069-78039069 on Build GRCh38
rs781759536	Chr.5: 78039162-78039162 on Build GRCh38
rs756994406	Chr.5: 78039271-78039271 on Build GRCh38
rs928845608	Chr.5: 78038832-78038832 on Build GRCh38
rs750433644	Chr.5: 78039156-78039157 on Build GRCh38
rs770455413	Chr.5: 78039179-78039179 on Build GRCh38
rs200985176	Chr.5: 78039085-78039085 on Build GRCh38
rs951058281	Chr.5: 78039027-78039027 on Build GRCh38
rs774631707	Chr.5: 78039143-78039143 on Build GRCh38
rs999392510	Chr.5: 78038968-78038968 on Build GRCh38
rs932217351	Chr.5: 78038932-78038932 on Build GRCh38
rs746328055	Chr.5: 78039163-78039163 on Build GRCh38
rs902217735	Chr.5: 78038952-78038952 on Build GRCh38
rs878879619	Chr.5: 78038958-78038958 on Build GRCh38
rs770332717	Chr.5: 78039075-78039075 on Build GRCh38
rs565017353	Chr.5: 78038929-78038929 on Build GRCh38
rs1049922800	Chr.5: 78038925-78038925 on Build GRCh38
rs765162490	Chr.5: 78039238-78039238 on Build GRCh38
rs151295181	Chr.5: 78038871-78038871 on Build GRCh38
rs770247199	Chr.5: 78038877-78038877 on Build GRCh38
rs77541448	Chr.5: 78038826-78038826 on Build GRCh38
rs763066332	Chr.5: 78038992-78038992 on Build GRCh38
rs778503399	Chr.5: 78039035-78039035 on Build GRCh38
rs763647354	Chr.5: 78039256-78039256 on Build GRCh38
rs561977108	Chr.5: 78039132-78039132 on Build GRCh38
rs192217190	Chr.5: 78038997-78038997 on Build GRCh38
rs746205404	Chr.5: 78039073-78039073 on Build GRCh38
rs1056281695	Chr.5: 78039265-78039265 on Build GRCh38
rs774705050	Chr.5: 78039209-78039209 on Build GRCh38
rs777107402	Chr.5: 78039046-78039046 on Build GRCh38
rs765309616	Chr.5: 78039031-78039032 on Build GRCh38
rs570046898	Chr.5: 78038874-78038874 on Build GRCh38
rs893622555	Chr.5: 78038988-78038988 on Build GRCh38
rs754832294	Chr.5: 78039029-78039029 on Build GRCh38
rs764958808	Chr.5: 78039095-78039095 on Build GRCh38
rs1052438449	Chr.5: 78038934-78038934 on Build GRCh38
rs759300647	Chr.5: 78039094-78039094 on Build GRCh38
rs745403781	Chr.5: 78038867-78038867 on Build GRCh38
rs146624866	Chr.5: 78039267-78039267 on Build GRCh38
rs970174552	Chr.5: 78039002-78039002 on Build GRCh38
rs766356766	Chr.5: 78039018-78039018 on Build GRCh38
rs756834284	Chr.5: 78039152-78039152 on Build GRCh38
rs75230657	Chr.5: 78038923-78038923 on Build GRCh38
rs746192704	Chr.5: 78038850-78038850 on Build GRCh38
rs761878887	Chr.5: 78039184-78039184 on Build GRCh38
rs758088280	Chr.5: 78039045-78039045 on Build GRCh38
rs762861855	Chr.5: 78039241-78039241 on Build GRCh38
rs772186737	Chr.5: 78039225-78039225 on Build GRCh38
rs761764690	Chr.5: 78039212-78039212 on Build GRCh38
rs763355104	Chr.5: 78038976-78038976 on Build GRCh38
rs143527588	Chr.5: 78039122-78039122 on Build GRCh38
rs751695483	Chr.5: 78038998-78038998 on Build GRCh38
rs777332984	Chr.5: 78039070-78039070 on Build GRCh38
rs535786508	Chr.5: 78038920-78038920 on Build GRCh38
rs144420604	Chr.5: 78039239-78039239 on Build GRCh38
rs572558916	Chr.5: 78038983-78038983 on Build GRCh38
rs201179527	Chr.5: 78039083-78039083 on Build GRCh38

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