Product Details

Primer Sequences

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Primer Chromosome Location

Chr.22: 26457794-26458047 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
6681967	c.1922G>A	p.R641H	Chr.22: 26457931-26457931 on Build GRCh38
7297856	c.1935G>A	p.A645A	Chr.22: 26457879-26457879 on Build GRCh38
726050	c.1934C>T	p.A645V	Chr.22: 26457880-26457880 on Build GRCh38
1032966	c.1932C>T	p.P644P	Chr.22: 26457882-26457882 on Build GRCh38
478828	c.1934C>A	p.A645D	Chr.22: 26457919-26457919 on Build GRCh38
4691088	c.1871C>T	p.P624L	Chr.22: 26457943-26457943 on Build GRCh38
1032968	c.1915G>A	p.E639K	Chr.22: 26457899-26457899 on Build GRCh38
7322420	c.1850A>G	p.N617S	Chr.22: 26457964-26457964 on Build GRCh38
5366401	c.1933G>A	p.A645T	Chr.22: 26457881-26457881 on Build GRCh38
5447460	c.1899G>A	p.Q633Q	Chr.22: 26457954-26457954 on Build GRCh38
7221279	c.1875G>T	p.Q625H	Chr.22: 26457939-26457939 on Build GRCh38
726051	c.1973C>T	p.A658V	Chr.22: 26457880-26457880 on Build GRCh38
7297857	c.1974G>A	p.A658A	Chr.22: 26457879-26457879 on Build GRCh38
6388583	c.1860G>T	p.Q620H	Chr.22: 26457954-26457954 on Build GRCh38
1032967	c.1971C>T	p.P657P	Chr.22: 26457882-26457882 on Build GRCh38
7238611	c.1871C>A	p.P624Q	Chr.22: 26457943-26457943 on Build GRCh38
1032969	c.1954G>A	p.E652K	Chr.22: 26457899-26457899 on Build GRCh38
1682169	c.1882C>T	p.R628C	Chr.22: 26457932-26457932 on Build GRCh38
5447459	c.1860G>A	p.Q620Q	Chr.22: 26457954-26457954 on Build GRCh38
7322421	c.1889A>G	p.N630S	Chr.22: 26457964-26457964 on Build GRCh38
4691089	c.1910C>T	p.P637L	Chr.22: 26457943-26457943 on Build GRCh38
291344	c.1896G>A	p.P632P	Chr.22: 26457957-26457957 on Build GRCh38
5366402	c.1972G>A	p.A658T	Chr.22: 26457881-26457881 on Build GRCh38
7221280	c.1914G>T	p.Q638H	Chr.22: 26457939-26457939 on Build GRCh38
7238612	c.1910C>A	p.P637Q	Chr.22: 26457943-26457943 on Build GRCh38
6388584	c.1899G>T	p.Q633H	Chr.22: 26457954-26457954 on Build GRCh38
1682170	c.1921C>T	p.R641C	Chr.22: 26457932-26457932 on Build GRCh38
6681966	c.1883G>A	p.R628H	Chr.22: 26457931-26457931 on Build GRCh38
291343	c.1857G>A	p.P619P	Chr.22: 26457957-26457957 on Build GRCh38
478827	c.1895C>A	p.A632D	Chr.22: 26457919-26457919 on Build GRCh38

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SNP Detail

SNP ID	Chromosome Location
rs778821267	Chr.22: 26457999-26457999 on Build GRCh38
rs374238081	Chr.22: 26457958-26457958 on Build GRCh38
rs757994858	Chr.22: 26457857-26457857 on Build GRCh38
rs958087682	Chr.22: 26457993-26457993 on Build GRCh38
rs757458387	Chr.22: 26458009-26458009 on Build GRCh38
rs201385335	Chr.22: 26457924-26457924 on Build GRCh38
rs139675793	Chr.22: 26457926-26457926 on Build GRCh38
rs775986716	Chr.22: 26457942-26457942 on Build GRCh38
rs914172192	Chr.22: 26457840-26457840 on Build GRCh38
rs752326891	Chr.22: 26457853-26457853 on Build GRCh38
rs553852142	Chr.22: 26457929-26457929 on Build GRCh38
rs774710039	Chr.22: 26457826-26457826 on Build GRCh38
rs878966136	Chr.22: 26457996-26457996 on Build GRCh38
rs78892693	Chr.22: 26457931-26457931 on Build GRCh38
rs149340443	Chr.22: 26457841-26457841 on Build GRCh38
rs776644648	Chr.22: 26457934-26457934 on Build GRCh38
rs749034221	Chr.22: 26457925-26457925 on Build GRCh38
rs745559996	Chr.22: 26457904-26457904 on Build GRCh38
rs745886017	Chr.22: 26458015-26458015 on Build GRCh38
rs749888433	Chr.22: 26457964-26457964 on Build GRCh38
rs750362522	Chr.22: 26457919-26457919 on Build GRCh38
rs281865099	Chr.22: 26457948-26457948 on Build GRCh38
rs202222123	Chr.22: 26457917-26457917 on Build GRCh38
rs1894705	Chr.22: 26458014-26458014 on Build GRCh38
rs755700962	Chr.22: 26457982-26457982 on Build GRCh38
rs200191479	Chr.22: 26457828-26457828 on Build GRCh38
rs750963690	Chr.22: 26457864-26457864 on Build GRCh38
rs368794951	Chr.22: 26457997-26457997 on Build GRCh38
rs781176374	Chr.22: 26457981-26457982 on Build GRCh38
rs1894704	Chr.22: 26457939-26457939 on Build GRCh38
rs777509970	Chr.22: 26457860-26457860 on Build GRCh38
rs119471021	Chr.22: 26457923-26457923 on Build GRCh38
rs187299338	Chr.22: 26457832-26457832 on Build GRCh38
rs878990544	Chr.22: 26457876-26457876 on Build GRCh38
rs538187229	Chr.22: 26457881-26457881 on Build GRCh38
rs749128912	Chr.22: 26457880-26457880 on Build GRCh38
rs373770186	Chr.22: 26457842-26457842 on Build GRCh38
rs770895794	Chr.22: 26457932-26457932 on Build GRCh38
rs377050180	Chr.22: 26457891-26457891 on Build GRCh38
rs979888734	Chr.22: 26457962-26457962 on Build GRCh38
rs35993959	Chr.22: 26457915-26457915 on Build GRCh38
rs763308032	Chr.22: 26457909-26457909 on Build GRCh38
rs776976418	Chr.22: 26457892-26457892 on Build GRCh38
rs753017691	Chr.22: 26457905-26457905 on Build GRCh38
rs377423056	Chr.22: 26457991-26457991 on Build GRCh38
rs373905924	Chr.22: 26457883-26457883 on Build GRCh38
rs747458376	Chr.22: 26457985-26457985 on Build GRCh38
rs773844011	Chr.22: 26457953-26457953 on Build GRCh38
rs373421312	Chr.22: 26457957-26457957 on Build GRCh38
rs78776248	Chr.22: 26458000-26458000 on Build GRCh38
rs776631201	Chr.22: 26457820-26457820 on Build GRCh38
rs536669961	Chr.22: 26457833-26457833 on Build GRCh38
rs765753447	Chr.22: 26457900-26457900 on Build GRCh38
rs769678704	Chr.22: 26457879-26457879 on Build GRCh38
rs146303784	Chr.22: 26457867-26457867 on Build GRCh38
rs759641785	Chr.22: 26457935-26457935 on Build GRCh38
rs1006212448	Chr.22: 26457921-26457921 on Build GRCh38
rs1033754962	Chr.22: 26457992-26457992 on Build GRCh38
rs760814660	Chr.22: 26457837-26457837 on Build GRCh38
rs200967353	Chr.22: 26457821-26457821 on Build GRCh38
rs769769322	Chr.22: 26457823-26457823 on Build GRCh38
rs780978556	Chr.22: 26457869-26457869 on Build GRCh38
rs766407420	Chr.22: 26457983-26457983 on Build GRCh38
rs370795890	Chr.22: 26457918-26457918 on Build GRCh38
rs553114134	Chr.22: 26457912-26457912 on Build GRCh38
rs936699336	Chr.22: 26457829-26457829 on Build GRCh38
rs760087525	Chr.22: 26457896-26457896 on Build GRCh38
rs745866776	Chr.22: 26457873-26457873 on Build GRCh38
rs560591308	Chr.22: 26457943-26457943 on Build GRCh38

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