Product Details

Primer Sequences
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Primer Chromosome Location
Chr.11: 18279607-18280040 on Build GRCh38
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
HPS5
Entrez Gene ID
11234
Gene Name
HPS5, biogenesis of lysosomal organelles complex 2 subunit 2
Gene Aliases
AIBP63, BLOC2S2
UniGene
Hs.437599
Gene Chromosome Location
Chr.11: 18278670-18322498 on Build GRCh38
Transcripts
NM_007216.3 NM_181507.1 NM_181508.1 XM_011519862.1 XM_011519863.1 XM_011519864.1 XM_011519865.1 XM_011519866.1 XM_011519867.1 XM_011519868.2 XM_017017149.1 XM_017017150.1 XM_017017151.1 XM_017017152.1 XM_017017153.1 XM_017017154.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
6068090 c.3372C>G p.L1124L Chr.11: 18279900-18279900 on Build GRCh38
5935728 c.3352G>A p.E1118K Chr.11: 18279920-18279920 on Build GRCh38
1254388 c.3360C>T p.C1120C Chr.11: 18279912-18279912 on Build GRCh38
687009 c.3348G>T p.M1116I Chr.11: 18279924-18279924 on Build GRCh38

SNP Detail

SNP ID Chromosome Location
rs928603180 Chr.11: 18279638-18279638 on Build GRCh38
rs527344057 Chr.11: 18279797-18279797 on Build GRCh38
rs752392025 Chr.11: 18279882-18279882 on Build GRCh38
rs759068006 Chr.11: 18279849-18279849 on Build GRCh38
rs771601145 Chr.11: 18279970-18279970 on Build GRCh38
rs773760510 Chr.11: 18279844-18279844 on Build GRCh38
rs758473248 Chr.11: 18279941-18279941 on Build GRCh38
rs189513887 Chr.11: 18279730-18279730 on Build GRCh38
rs769335693 Chr.11: 18279799-18279799 on Build GRCh38
rs776484868 Chr.11: 18279787-18279787 on Build GRCh38
rs757870701 Chr.11: 18279911-18279911 on Build GRCh38
rs372666439 Chr.11: 18279979-18279979 on Build GRCh38
rs779428154 Chr.11: 18279912-18279912 on Build GRCh38
rs186524855 Chr.11: 18279965-18279965 on Build GRCh38
rs180800764 Chr.11: 18279749-18279749 on Build GRCh38
rs947528559 Chr.11: 18279726-18279726 on Build GRCh38
rs375782751 Chr.11: 18279956-18279956 on Build GRCh38
rs561560510 Chr.11: 18280001-18280001 on Build GRCh38
rs543728640 Chr.11: 18279995-18279995 on Build GRCh38
rs760409544 Chr.11: 18279984-18279984 on Build GRCh38
rs201017833 Chr.11: 18279907-18279907 on Build GRCh38
rs577622655 Chr.11: 18279768-18279768 on Build GRCh38
rs886048074 Chr.11: 18279700-18279700 on Build GRCh38
rs754189788 Chr.11: 18279908-18279908 on Build GRCh38
rs896632759 Chr.11: 18279659-18279659 on Build GRCh38
rs768014412 Chr.11: 18279834-18279835 on Build GRCh38
rs938794149 Chr.11: 18279700-18279700 on Build GRCh38
rs991949414 Chr.11: 18279723-18279723 on Build GRCh38
rs763801997 Chr.11: 18279991-18279991 on Build GRCh38
rs1021289574 Chr.11: 18279822-18279822 on Build GRCh38
rs769571100 Chr.11: 18279832-18279832 on Build GRCh38
rs371535842 Chr.11: 18279812-18279812 on Build GRCh38
rs1043357116 Chr.11: 18279735-18279735 on Build GRCh38
rs774317430 Chr.11: 18279969-18279969 on Build GRCh38
rs574761570 Chr.11: 18279737-18279737 on Build GRCh38
rs747217501 Chr.11: 18279950-18279950 on Build GRCh38
rs770872920 Chr.11: 18279966-18279966 on Build GRCh38
rs200556683 Chr.11: 18279894-18279894 on Build GRCh38
rs368130502 Chr.11: 18279877-18279877 on Build GRCh38
rs1014941717 Chr.11: 18279741-18279741 on Build GRCh38
rs916119305 Chr.11: 18279725-18279725 on Build GRCh38
rs777545925 Chr.11: 18279960-18279960 on Build GRCh38
rs750516587 Chr.11: 18279932-18279932 on Build GRCh38
rs780205960 Chr.11: 18279943-18279943 on Build GRCh38
rs1052111007 Chr.11: 18279763-18279763 on Build GRCh38
rs915967368 Chr.11: 18279974-18279974 on Build GRCh38
rs750615637 Chr.11: 18279946-18279946 on Build GRCh38
rs934873764 Chr.11: 18279745-18279745 on Build GRCh38
rs56325867 Chr.11: 18279827-18279827 on Build GRCh38
rs997275860 Chr.11: 18279795-18279795 on Build GRCh38
rs942085755 Chr.11: 18280007-18280008 on Build GRCh38
rs1045129024 Chr.11: 18279708-18279708 on Build GRCh38
rs953209362 Chr.11: 18279811-18279811 on Build GRCh38
rs770786579 Chr.11: 18279842-18279842 on Build GRCh38
rs375091608 Chr.11: 18279841-18279841 on Build GRCh38

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