Product Details

Primer Sequences: Log in to view
Primer Chromosome Location: Chr.5: 78039058-78039293 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

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
335223	c.2578-2A>T	p.?	Chr.5: 78039276-78039276 on Build GRCh38
272344	c.2762A>G	p.E921G	Chr.5: 78039090-78039090 on Build GRCh38
739173	c.2760G>A	p.G920G	Chr.5: 78039092-78039092 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
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
1183130	c.2650G>A	p.A884T	Chr.5: 78039202-78039202 on Build GRCh38
3920361	c.2604G>A	p.T868T	Chr.5: 78039248-78039248 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
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
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
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

SNP Detail

SNP ID	Chromosome Location
rs765162490	Chr.5: 78039238-78039238 on Build GRCh38
rs574048736	Chr.5: 78039088-78039088 on Build GRCh38
rs763647354	Chr.5: 78039256-78039256 on Build GRCh38
rs561977108	Chr.5: 78039132-78039132 on Build GRCh38
rs375205110	Chr.5: 78039200-78039200 on Build GRCh38
rs773298750	Chr.5: 78039226-78039226 on Build GRCh38
rs752519227	Chr.5: 78039118-78039118 on Build GRCh38
rs1056281695	Chr.5: 78039265-78039265 on Build GRCh38
rs753810749	Chr.5: 78039090-78039090 on Build GRCh38
rs869312835	Chr.5: 78039150-78039150 on Build GRCh38
rs774705050	Chr.5: 78039209-78039209 on Build GRCh38
rs866933996	Chr.5: 78039216-78039216 on Build GRCh38
rs139344924	Chr.5: 78039191-78039191 on Build GRCh38
rs764958808	Chr.5: 78039095-78039095 on Build GRCh38
rs780503803	Chr.5: 78039181-78039181 on Build GRCh38
rs759300647	Chr.5: 78039094-78039094 on Build GRCh38
rs781759536	Chr.5: 78039162-78039162 on Build GRCh38
rs146624866	Chr.5: 78039267-78039267 on Build GRCh38
rs770455413	Chr.5: 78039179-78039179 on Build GRCh38
rs750433644	Chr.5: 78039156-78039157 on Build GRCh38
rs756834284	Chr.5: 78039152-78039152 on Build GRCh38
rs774631707	Chr.5: 78039143-78039143 on Build GRCh38
rs761878887	Chr.5: 78039184-78039184 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
rs746328055	Chr.5: 78039163-78039163 on Build GRCh38
rs143527588	Chr.5: 78039122-78039122 on Build GRCh38
rs144420604	Chr.5: 78039239-78039239 on Build GRCh38

View Full Product Details