Product Details

Primer Sequences

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Primer Chromosome Location

Chr.22: 26464051-26464302 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

HPS4

Entrez Gene ID

89781

Gene Name

HPS4, biogenesis of lysosomal organelles complex 3 subunit 2

Gene Aliases

BLOC3S2, LE

UniGene

Hs.474436

Gene Chromosome Location

Chr.22: 26443613-26483863 on Build GRCh38

Transcripts

NM_022081.5 NM_152841.2 NR_073135.1 NR_073136.1 XM_006724353.3 XM_006724354.3 XM_006724360.3 XM_011530485.1 XM_011530486.2 XM_011530487.2 XM_011530488.2 XM_011530489.2 XM_011530490.2 XM_011530491.2 XM_011530492.1 XM_011530493.2 XM_011530494.2 XM_011530495.2 XM_011530496.2 XM_017029042.1 XM_017029043.1 XM_017029044.1 XM_017029045.1 XM_017029046.1 XM_017029047.1 XM_017029048.1 XM_017029049.1 XM_017029050.1 XM_017029051.1 XM_017029052.1 XM_017029053.1 XM_017029054.1 XM_017029055.1 XM_017029056.1 XM_017029057.1 XM_017029058.1 XM_017029059.1 XM_017029060.1 XM_017029061.1 XM_017029062.1 XM_017029063.1 XM_017029064.1

Cosmic Detail

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Cosmic ID	Mutation	AA	Transcript Location
2935537	c.1466C>T	p.P489L	Chr.22: 26464203-26464203 on Build GRCh38
4691091	c.1539C>T	p.S513S	Chr.22: 26464130-26464130 on Build GRCh38
5651995	c.1519G>C	p.E507Q	Chr.22: 26464111-26464111 on Build GRCh38
6681973	c.1525G>A	p.G509R	Chr.22: 26464144-26464144 on Build GRCh38
6526433	c.1458G>T	p.G486G	Chr.22: 26464172-26464172 on Build GRCh38
3800091	c.1543G>A	p.A515T	Chr.22: 26464126-26464126 on Build GRCh38
5515784	c.1493C>T	p.T498M	Chr.22: 26464176-26464176 on Build GRCh38
4468142	c.1529C>G	p.S510*	Chr.22: 26464101-26464101 on Build GRCh38
6526434	c.1497G>T	p.G499G	Chr.22: 26464172-26464172 on Build GRCh38
5684804	c.1434C>T	p.T478T	Chr.22: 26464235-26464235 on Build GRCh38
3740377	c.1498A>G	p.S500G	Chr.22: 26464132-26464132 on Build GRCh38
281768	c.1368C>T	p.L456L	Chr.22: 26464301-26464301 on Build GRCh38
1032973	c.1494G>A	p.T498T	Chr.22: 26464175-26464175 on Build GRCh38
4819886	c.1388G>A	p.R463K	Chr.22: 26464242-26464242 on Build GRCh38
5057739	c.1533T>C	p.C511C	Chr.22: 26464136-26464136 on Build GRCh38
4923271	c.1362C>G	p.P454P	Chr.22: 26464268-26464268 on Build GRCh38
3552985	c.1366C>T	p.P456S	Chr.22: 26464264-26464264 on Build GRCh38
1415355	c.1537G>A	p.A513T	Chr.22: 26464093-26464093 on Build GRCh38
4298168	c.1379C>A	p.P460H	Chr.22: 26464251-26464251 on Build GRCh38
4527068	c.1478G>A	p.G493E	Chr.22: 26464191-26464191 on Build GRCh38
5436457	c.1492A>T	p.T498S	Chr.22: 26464177-26464177 on Build GRCh38
2935536	c.1427C>T	p.P476L	Chr.22: 26464203-26464203 on Build GRCh38
4691092	c.1417C>T	p.R473C	Chr.22: 26464213-26464213 on Build GRCh38
1327293	c.1536A>G	p.E512E	Chr.22: 26464133-26464133 on Build GRCh38
1032972	c.1455G>A	p.T485T	Chr.22: 26464175-26464175 on Build GRCh38
4819887	c.1427G>A	p.R476K	Chr.22: 26464242-26464242 on Build GRCh38
3552984	c.1490C>T	p.P497L	Chr.22: 26464179-26464179 on Build GRCh38
4923272	c.1401C>G	p.P467P	Chr.22: 26464268-26464268 on Build GRCh38
444812	c.1408A>C	p.R470R	Chr.22: 26464261-26464261 on Build GRCh38
5515783	c.1454C>T	p.T485M	Chr.22: 26464176-26464176 on Build GRCh38
4691093	c.1456C>T	p.R486C	Chr.22: 26464213-26464213 on Build GRCh38
2935541	c.1384C>A	p.H462N	Chr.22: 26464285-26464285 on Build GRCh38
3800090	c.1504G>A	p.A502T	Chr.22: 26464126-26464126 on Build GRCh38
4103181	c.1616G>A	p.S539N	Chr.22: 26464053-26464053 on Build GRCh38
5684803	c.1395C>T	p.T465T	Chr.22: 26464235-26464235 on Build GRCh38
281767	c.1329C>T	p.L443L	Chr.22: 26464301-26464301 on Build GRCh38
5057738	c.1494T>C	p.C498C	Chr.22: 26464136-26464136 on Build GRCh38
5651996	c.1558G>C	p.E520Q	Chr.22: 26464111-26464111 on Build GRCh38
4527067	c.1439G>A	p.G480E	Chr.22: 26464191-26464191 on Build GRCh38
5436456	c.1453A>T	p.T485S	Chr.22: 26464177-26464177 on Build GRCh38
4468143	c.1568C>G	p.S523*	Chr.22: 26464101-26464101 on Build GRCh38
1327292	c.1497A>G	p.E499E	Chr.22: 26464133-26464133 on Build GRCh38
3552983	c.1451C>T	p.P484L	Chr.22: 26464179-26464179 on Build GRCh38
444811	c.1369A>C	p.R457R	Chr.22: 26464261-26464261 on Build GRCh38
3740378	c.1537A>G	p.S513G	Chr.22: 26464132-26464132 on Build GRCh38
4691090	c.1500C>T	p.S500S	Chr.22: 26464130-26464130 on Build GRCh38
1415356	c.1576G>A	p.A526T	Chr.22: 26464093-26464093 on Build GRCh38
2935540	c.1345C>A	p.H449N	Chr.22: 26464285-26464285 on Build GRCh38
4298169	c.1418C>A	p.P473H	Chr.22: 26464251-26464251 on Build GRCh38
4103180	c.1577G>A	p.S526N	Chr.22: 26464053-26464053 on Build GRCh38
3552986	c.1405C>T	p.P469S	Chr.22: 26464264-26464264 on Build GRCh38
6681972	c.1486G>A	p.G496R	Chr.22: 26464144-26464144 on Build GRCh38

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SNP Detail

SNP ID	Chromosome Location
rs772234990	Chr.22: 26464176-26464176 on Build GRCh38
rs868526867	Chr.22: 26464241-26464241 on Build GRCh38
rs375587915	Chr.22: 26464260-26464260 on Build GRCh38
rs763311479	Chr.22: 26464110-26464110 on Build GRCh38
rs988050148	Chr.22: 26464178-26464178 on Build GRCh38
rs767852159	Chr.22: 26464126-26464126 on Build GRCh38
rs549290787	Chr.22: 26464219-26464219 on Build GRCh38
rs774532334	Chr.22: 26464119-26464119 on Build GRCh38
rs186173240	Chr.22: 26464270-26464270 on Build GRCh38
rs372833027	Chr.22: 26464084-26464084 on Build GRCh38
rs141008676	Chr.22: 26464094-26464094 on Build GRCh38
rs772205948	Chr.22: 26464247-26464247 on Build GRCh38
rs148134252	Chr.22: 26464087-26464087 on Build GRCh38
rs367810755	Chr.22: 26464097-26464097 on Build GRCh38
rs142958812	Chr.22: 26464233-26464233 on Build GRCh38
rs770822747	Chr.22: 26464103-26464103 on Build GRCh38
rs752092814	Chr.22: 26464148-26464148 on Build GRCh38
rs965241113	Chr.22: 26464222-26464222 on Build GRCh38
rs893836600	Chr.22: 26464125-26464125 on Build GRCh38
rs756030696	Chr.22: 26464236-26464236 on Build GRCh38
rs147435410	Chr.22: 26464234-26464234 on Build GRCh38
rs768468362	Chr.22: 26464277-26464279 on Build GRCh38
rs983056340	Chr.22: 26464254-26464254 on Build GRCh38
rs11545917	Chr.22: 26464143-26464143 on Build GRCh38
rs757988379	Chr.22: 26464150-26464150 on Build GRCh38
rs957749322	Chr.22: 26464269-26464269 on Build GRCh38
rs754462097	Chr.22: 26464091-26464091 on Build GRCh38
rs761197874	Chr.22: 26464187-26464187 on Build GRCh38
rs777570870	Chr.22: 26464151-26464151 on Build GRCh38
rs778544549	Chr.22: 26464142-26464142 on Build GRCh38
rs748136926	Chr.22: 26464274-26464274 on Build GRCh38
rs769017976	Chr.22: 26464116-26464116 on Build GRCh38
rs754224646	Chr.22: 26464137-26464137 on Build GRCh38
rs773570398	Chr.22: 26464180-26464180 on Build GRCh38
rs768100817	Chr.22: 26464073-26464073 on Build GRCh38
rs756215705	Chr.22: 26464175-26464175 on Build GRCh38
rs764860798	Chr.22: 26464216-26464216 on Build GRCh38
rs756512740	Chr.22: 26464076-26464076 on Build GRCh38
rs1034179775	Chr.22: 26464120-26464120 on Build GRCh38
rs773303744	Chr.22: 26464252-26464252 on Build GRCh38
rs774728501	Chr.22: 26464166-26464166 on Build GRCh38
rs1021234084	Chr.22: 26464164-26464164 on Build GRCh38
rs754066787	Chr.22: 26464245-26464245 on Build GRCh38
rs745687268	Chr.22: 26464163-26464163 on Build GRCh38
rs139039617	Chr.22: 26464212-26464212 on Build GRCh38
rs372027593	Chr.22: 26464235-26464235 on Build GRCh38
rs757812079	Chr.22: 26464227-26464227 on Build GRCh38
rs763704933	Chr.22: 26464228-26464228 on Build GRCh38
rs775820827	Chr.22: 26464106-26464106 on Build GRCh38
rs751051493	Chr.22: 26464231-26464231 on Build GRCh38
rs766781092	Chr.22: 26464128-26464128 on Build GRCh38
rs761956374	Chr.22: 26464121-26464121 on Build GRCh38
rs781082499	Chr.22: 26464158-26464158 on Build GRCh38
rs778346173	Chr.22: 26464092-26464092 on Build GRCh38
rs534067573	Chr.22: 26464127-26464127 on Build GRCh38
rs768931718	Chr.22: 26464165-26464165 on Build GRCh38
rs770823084	Chr.22: 26464152-26464152 on Build GRCh38
rs766903925	Chr.22: 26464188-26464188 on Build GRCh38
rs942076085	Chr.22: 26464173-26464173 on Build GRCh38
rs759909785	Chr.22: 26464213-26464213 on Build GRCh38
rs778998363	Chr.22: 26464243-26464243 on Build GRCh38
rs150216540	Chr.22: 26464095-26464095 on Build GRCh38
rs750685060	Chr.22: 26464074-26464074 on Build GRCh38

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