Product Details

Primer Sequences

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Primer Chromosome Location

Chr.22: 26453182-26453453 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
5519792	c.2020G>A	p.A674T	Chr.22: 26453340-26453340 on Build GRCh38
4103175	c.2097G>A	p.Q699Q	Chr.22: 26453302-26453302 on Build GRCh38
1032962	c.2081G>A	p.G694D	Chr.22: 26453279-26453279 on Build GRCh38
212943	c.2041G>A	p.G681S	Chr.22: 26453319-26453319 on Build GRCh38
6681971	c.2016C>T	p.Y672Y	Chr.22: 26453383-26453383 on Build GRCh38
4691084	c.2040C>T	p.S680S	Chr.22: 26453320-26453320 on Build GRCh38
1032964	c.2080G>A	p.G694S	Chr.22: 26453280-26453280 on Build GRCh38
7314019	c.1996C>A	p.Q666K	Chr.22: 26453364-26453364 on Build GRCh38
4691086	c.2033G>A	p.R678Q	Chr.22: 26453327-26453327 on Build GRCh38
6681960	c.2079C>T	p.S693S	Chr.22: 26453281-26453281 on Build GRCh38
4475716	c.2010C>T	p.F670F	Chr.22: 26453350-26453350 on Build GRCh38
6320925	c.1965C>A	p.S655S	Chr.22: 26453395-26453395 on Build GRCh38
212944	c.2080G>A	p.G694S	Chr.22: 26453319-26453319 on Build GRCh38
1032963	c.2120G>A	p.G707D	Chr.22: 26453279-26453279 on Build GRCh38
5519793	c.2059G>A	p.A687T	Chr.22: 26453340-26453340 on Build GRCh38
1032965	c.2119G>A	p.G707S	Chr.22: 26453280-26453280 on Build GRCh38
1662187	c.2026G>A	p.A676T	Chr.22: 26453334-26453334 on Build GRCh38
7314020	c.2035C>A	p.Q679K	Chr.22: 26453364-26453364 on Build GRCh38
364577	c.1972G>T	p.V658L	Chr.22: 26453388-26453388 on Build GRCh38
4691085	c.2079C>T	p.S693S	Chr.22: 26453320-26453320 on Build GRCh38
4691087	c.2072G>A	p.R691Q	Chr.22: 26453327-26453327 on Build GRCh38
6681961	c.2118C>T	p.S706S	Chr.22: 26453281-26453281 on Build GRCh38
1682167	c.1999G>A	p.E667K	Chr.22: 26453361-26453361 on Build GRCh38
3552977	c.2110G>T	p.G704W	Chr.22: 26453250-26453250 on Build GRCh38
6190186	c.2146C>G	p.H716D	Chr.22: 26453253-26453253 on Build GRCh38
4475717	c.2049C>T	p.F683F	Chr.22: 26453350-26453350 on Build GRCh38
3552979	c.1971T>G	p.A657A	Chr.22: 26453389-26453389 on Build GRCh38
364578	c.2011G>T	p.V671L	Chr.22: 26453388-26453388 on Build GRCh38
6320926	c.2004C>A	p.S668S	Chr.22: 26453395-26453395 on Build GRCh38
1662188	c.2065G>A	p.A689T	Chr.22: 26453334-26453334 on Build GRCh38
4930927	c.2057A>C	p.Q686P	Chr.22: 26453303-26453303 on Build GRCh38
1682168	c.2038G>A	p.E680K	Chr.22: 26453361-26453361 on Build GRCh38
6190185	c.2107C>G	p.H703D	Chr.22: 26453253-26453253 on Build GRCh38
4974740	c.2076C>G	p.L692L	Chr.22: 26453284-26453284 on Build GRCh38
3552978	c.2149G>T	p.G717W	Chr.22: 26453250-26453250 on Build GRCh38
3552980	c.2010T>G	p.A670A	Chr.22: 26453389-26453389 on Build GRCh38
6681970	c.1977C>T	p.Y659Y	Chr.22: 26453383-26453383 on Build GRCh38
4103174	c.2058G>A	p.Q686Q	Chr.22: 26453302-26453302 on Build GRCh38
4930928	c.2096A>C	p.Q699P	Chr.22: 26453303-26453303 on Build GRCh38
4974741	c.2115C>G	p.L705L	Chr.22: 26453284-26453284 on Build GRCh38

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SNP Detail

SNP ID	Chromosome Location
rs761967529	Chr.22: 26453392-26453392 on Build GRCh38
rs955879389	Chr.22: 26453389-26453389 on Build GRCh38
rs281865100	Chr.22: 26453266-26453267 on Build GRCh38
rs756494145	Chr.22: 26453335-26453335 on Build GRCh38
rs746961193	Chr.22: 26453356-26453356 on Build GRCh38
rs752931351	Chr.22: 26453320-26453320 on Build GRCh38
rs776239550	Chr.22: 26453372-26453372 on Build GRCh38
rs867819224	Chr.22: 26453390-26453390 on Build GRCh38
rs768058057	Chr.22: 26453310-26453310 on Build GRCh38
rs752920923	Chr.22: 26453212-26453212 on Build GRCh38
rs761348469	Chr.22: 26453304-26453304 on Build GRCh38
rs367897224	Chr.22: 26453250-26453250 on Build GRCh38
rs927781508	Chr.22: 26453374-26453374 on Build GRCh38
rs767769111	Chr.22: 26453393-26453393 on Build GRCh38
rs144248515	Chr.22: 26453383-26453383 on Build GRCh38
rs138189133	Chr.22: 26453281-26453281 on Build GRCh38
rs567467720	Chr.22: 26453242-26453242 on Build GRCh38
rs773877528	Chr.22: 26453218-26453218 on Build GRCh38
rs750947119	Chr.22: 26453332-26453332 on Build GRCh38
rs187997943	Chr.22: 26453429-26453429 on Build GRCh38
rs374200129	Chr.22: 26453348-26453348 on Build GRCh38
rs148294572	Chr.22: 26453394-26453394 on Build GRCh38
rs765442752	Chr.22: 26453209-26453209 on Build GRCh38
rs770063857	Chr.22: 26453271-26453271 on Build GRCh38
rs773131180	Chr.22: 26453350-26453350 on Build GRCh38
rs368602340	Chr.22: 26453360-26453360 on Build GRCh38
rs757412572	Chr.22: 26453327-26453327 on Build GRCh38
rs202120615	Chr.22: 26453401-26453401 on Build GRCh38
rs768192969	Chr.22: 26453295-26453295 on Build GRCh38
rs781772371	Chr.22: 26453251-26453251 on Build GRCh38
rs751436667	Chr.22: 26453222-26453222 on Build GRCh38
rs754550717	Chr.22: 26453339-26453339 on Build GRCh38
rs747600132	Chr.22: 26453345-26453345 on Build GRCh38
rs145698999	Chr.22: 26453269-26453269 on Build GRCh38
rs777195255	Chr.22: 26453431-26453431 on Build GRCh38
rs370493873	Chr.22: 26453323-26453323 on Build GRCh38
rs9625029	Chr.22: 26453398-26453398 on Build GRCh38
rs757158956	Chr.22: 26453420-26453421 on Build GRCh38
rs764344335	Chr.22: 26453380-26453380 on Build GRCh38
rs747863960	Chr.22: 26453430-26453430 on Build GRCh38
rs760506995	Chr.22: 26453314-26453314 on Build GRCh38
rs771929646	Chr.22: 26453307-26453307 on Build GRCh38
rs761057923	Chr.22: 26453324-26453324 on Build GRCh38
rs887255774	Chr.22: 26453204-26453204 on Build GRCh38
rs752827715	Chr.22: 26453392-26453393 on Build GRCh38
rs755354422	Chr.22: 26453417-26453417 on Build GRCh38
rs779739799	Chr.22: 26453280-26453280 on Build GRCh38
rs759405900	Chr.22: 26453373-26453373 on Build GRCh38
rs921242818	Chr.22: 26453424-26453424 on Build GRCh38
rs754088753	Chr.22: 26453407-26453407 on Build GRCh38
rs773804490	Chr.22: 26453299-26453299 on Build GRCh38
rs530118832	Chr.22: 26453382-26453382 on Build GRCh38
rs558103922	Chr.22: 26453231-26453231 on Build GRCh38
rs768075866	Chr.22: 26453328-26453328 on Build GRCh38
rs201206642	Chr.22: 26453400-26453400 on Build GRCh38
rs749689033	Chr.22: 26453336-26453336 on Build GRCh38
rs373741660	Chr.22: 26453228-26453228 on Build GRCh38
rs778546132	Chr.22: 26453344-26453344 on Build GRCh38
rs149568178	Chr.22: 26453319-26453319 on Build GRCh38

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