Product Details

Primer Sequences

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Primer Chromosome Location

Chr.3: 149140942-149141179 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

HPS3

Entrez Gene ID

84343

Gene Name

HPS3, biogenesis of lysosomal organelles complex 2 subunit 1

Gene Aliases

BLOC2S1, SUTAL

UniGene

Hs.558314

Gene Chromosome Location

Chr.3: 149129584-149173196 on Build GRCh38

Transcripts

NM_001308258.1 NM_032383.4 XM_005247834.3 XM_017007323.1

Cosmic Detail

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Cosmic ID	Mutation	AA	Transcript Location
4630832	c.769C>T	p.P257S	Chr.3: 149141073-149141073 on Build GRCh38
3660254	c.860C>A	p.S287Y	Chr.3: 149141164-149141164 on Build GRCh38
3729023	c.713-10delT	p.?	Chr.3: 149141007-149141007 on Build GRCh38
4450729	c.809_817delTATCTGTTA	p.L270_T273>S	Chr.3: 149141113-149141121 on Build GRCh38
445777	c.812C>G	p.S271C	Chr.3: 149141116-149141116 on Build GRCh38
7142103	c.756C>A	p.V252V	Chr.3: 149141060-149141060 on Build GRCh38
6096361	c.763C>A	p.Q255K	Chr.3: 149141067-149141067 on Build GRCh38
1039741	c.809T>G	p.L270*	Chr.3: 149141113-149141113 on Build GRCh38
4598588	c.868C>T	p.Q290*	Chr.3: 149141172-149141172 on Build GRCh38
6096362	c.754G>C	p.V252L	Chr.3: 149141058-149141058 on Build GRCh38
6681946	c.737T>C	p.L246P	Chr.3: 149141041-149141041 on Build GRCh38
4319798	c.850A>C	p.R284R	Chr.3: 149141154-149141154 on Build GRCh38

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SNP Detail

SNP ID	Chromosome Location
rs1057018509	Chr.3: 149141107-149141107 on Build GRCh38
rs745431040	Chr.3: 149141110-149141110 on Build GRCh38
rs200882543	Chr.3: 149141142-149141142 on Build GRCh38
rs1050450815	Chr.3: 149141020-149141020 on Build GRCh38
rs373328893	Chr.3: 149141134-149141134 on Build GRCh38
rs763914859	Chr.3: 149141130-149141131 on Build GRCh38
rs765371581	Chr.3: 149141017-149141017 on Build GRCh38
rs186810630	Chr.3: 149140985-149140985 on Build GRCh38
rs755372867	Chr.3: 149141038-149141038 on Build GRCh38
rs374691328	Chr.3: 149141013-149141013 on Build GRCh38
rs775608316	Chr.3: 149141123-149141123 on Build GRCh38
rs373488474	Chr.3: 149141029-149141029 on Build GRCh38
rs752004185	Chr.3: 149141118-149141118 on Build GRCh38
rs759560948	Chr.3: 149141006-149141007 on Build GRCh38
rs756796449	Chr.3: 149141079-149141079 on Build GRCh38
rs767334706	Chr.3: 149141029-149141030 on Build GRCh38
rs545439652	Chr.3: 149141064-149141064 on Build GRCh38
rs369702803	Chr.3: 149141133-149141133 on Build GRCh38
rs752034836	Chr.3: 149141037-149141037 on Build GRCh38
rs927155737	Chr.3: 149141093-149141093 on Build GRCh38
rs775449783	Chr.3: 149141030-149141031 on Build GRCh38
rs34388030	Chr.3: 149141127-149141127 on Build GRCh38
rs376398872	Chr.3: 149141101-149141101 on Build GRCh38
rs998964541	Chr.3: 149141124-149141124 on Build GRCh38
rs1040411263	Chr.3: 149141076-149141076 on Build GRCh38
rs903384018	Chr.3: 149141098-149141098 on Build GRCh38
rs766853921	Chr.3: 149141030-149141030 on Build GRCh38
rs778626931	Chr.3: 149141085-149141085 on Build GRCh38
rs1037729992	Chr.3: 149141075-149141075 on Build GRCh38
rs781494097	Chr.3: 149141050-149141050 on Build GRCh38
rs750685598	Chr.3: 149141154-149141155 on Build GRCh38
rs768596431	Chr.3: 149141131-149141131 on Build GRCh38
rs143594510	Chr.3: 149141000-149141000 on Build GRCh38
rs750402363	Chr.3: 149141023-149141023 on Build GRCh38
rs762079803	Chr.3: 149141005-149141005 on Build GRCh38
rs760577035	Chr.3: 149141032-149141033 on Build GRCh38
rs886058075	Chr.3: 149141020-149141020 on Build GRCh38

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