Product Details

Primer Sequences
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Primer Chromosome Location
Chr.19: 45179720-45180226 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
BLOC1S3
Entrez Gene ID
388552
Gene Name
biogenesis of lysosomal organelles complex 1 subunit 3
Gene Aliases
BLOS3, HPS8, RP
UniGene
Hs.103902
Gene Chromosome Location
Chr.19: 45178745-45202715 on Build GRCh38
Transcripts
NM_212550.4

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
4889267 c.569C>T p.P190L Chr.19: 45179865-45179865 on Build GRCh38
3103870 c.602G>C p.R201P Chr.19: 45179898-45179898 on Build GRCh38
4665794 c.554A>G p.D185G Chr.19: 45179850-45179850 on Build GRCh38
1190080 c.599C>G p.P200R Chr.19: 45179895-45179895 on Build GRCh38
6151494 c.495G>T p.G165G Chr.19: 45179791-45179791 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs372509527 Chr.19: 45179925-45179925 on Build GRCh38
rs907447666 Chr.19: 45179764-45179764 on Build GRCh38
rs35338638 Chr.19: 45179914-45179914 on Build GRCh38
rs756965386 Chr.19: 45179803-45179803 on Build GRCh38
rs768620173 Chr.19: 45179950-45179950 on Build GRCh38
rs970536894 Chr.19: 45180149-45180149 on Build GRCh38
rs902867467 Chr.19: 45179972-45179973 on Build GRCh38
rs901486118 Chr.19: 45180101-45180101 on Build GRCh38
rs961366244 Chr.19: 45180062-45180062 on Build GRCh38
rs938658189 Chr.19: 45180165-45180165 on Build GRCh38
rs552139493 Chr.19: 45180001-45180001 on Build GRCh38
rs1043521419 Chr.19: 45180041-45180041 on Build GRCh38
rs928647238 Chr.19: 45180155-45180155 on Build GRCh38
rs1016375313 Chr.19: 45180146-45180146 on Build GRCh38
rs747349710 Chr.19: 45179755-45179755 on Build GRCh38
rs374759575 Chr.19: 45179945-45179946 on Build GRCh38
rs950565662 Chr.19: 45180140-45180140 on Build GRCh38
rs572296006 Chr.19: 45179795-45179795 on Build GRCh38
rs775350825 Chr.19: 45179895-45179895 on Build GRCh38
rs570559399 Chr.19: 45180060-45180061 on Build GRCh38
rs765184324 Chr.19: 45179956-45179956 on Build GRCh38
rs780704369 Chr.19: 45179810-45179810 on Build GRCh38
rs998484422 Chr.19: 45179974-45179974 on Build GRCh38
rs778521433 Chr.19: 45179808-45179808 on Build GRCh38
rs540921310 Chr.19: 45179839-45179839 on Build GRCh38
rs764955305 Chr.19: 45179913-45179913 on Build GRCh38
rs200799185 Chr.19: 45179801-45179801 on Build GRCh38
rs913469463 Chr.19: 45180191-45180191 on Build GRCh38
rs200567085 Chr.19: 45179787-45179787 on Build GRCh38
rs747574573 Chr.19: 45179821-45179821 on Build GRCh38
rs1022781192 Chr.19: 45180010-45180010 on Build GRCh38
rs201441961 Chr.19: 45179786-45179786 on Build GRCh38
rs769129098 Chr.19: 45179760-45179760 on Build GRCh38
rs1007634120 Chr.19: 45179825-45179825 on Build GRCh38
rs924156866 Chr.19: 45180134-45180135 on Build GRCh38
rs778828143 Chr.19: 45179746-45179757 on Build GRCh38
rs776189174 Chr.19: 45179748-45179748 on Build GRCh38
rs773311661 Chr.19: 45179784-45179784 on Build GRCh38
rs749527953 Chr.19: 45179939-45179939 on Build GRCh38
rs184451510 Chr.19: 45179799-45179799 on Build GRCh38
rs748273383 Chr.19: 45179849-45179849 on Build GRCh38
rs981398043 Chr.19: 45180031-45180031 on Build GRCh38
rs148427902 Chr.19: 45180151-45180151 on Build GRCh38
rs772376105 Chr.19: 45179944-45179945 on Build GRCh38
rs947596880 Chr.19: 45180195-45180195 on Build GRCh38
rs961858497 Chr.19: 45179769-45179769 on Build GRCh38
rs368261458 Chr.19: 45179922-45179922 on Build GRCh38
rs776477608 Chr.19: 45179952-45179952 on Build GRCh38
rs201502372 Chr.19: 45179774-45179774 on Build GRCh38
rs767423019 Chr.19: 45179847-45179847 on Build GRCh38
rs886054492 Chr.19: 45180062-45180062 on Build GRCh38
rs761566196 Chr.19: 45179907-45179907 on Build GRCh38
rs765158879 Chr.19: 45179782-45179782 on Build GRCh38
rs997437119 Chr.19: 45180112-45180112 on Build GRCh38
rs974035116 Chr.19: 45180063-45180063 on Build GRCh38
rs909218603 Chr.19: 45179738-45179738 on Build GRCh38
rs891369026 Chr.19: 45179756-45179756 on Build GRCh38
rs770094438 Chr.19: 45179934-45179934 on Build GRCh38
rs76467674 Chr.19: 45180145-45180145 on Build GRCh38
rs908384591 Chr.19: 45180131-45180132 on Build GRCh38
rs1032770235 Chr.19: 45179994-45179994 on Build GRCh38
rs750035810 Chr.19: 45179957-45179957 on Build GRCh38
rs773471153 Chr.19: 45179861-45179861 on Build GRCh38
rs376405849 Chr.19: 45179911-45179911 on Build GRCh38
rs777965410 Chr.19: 45179936-45179936 on Build GRCh38
rs1023339987 Chr.19: 45179872-45179872 on Build GRCh38
rs966342964 Chr.19: 45179877-45179877 on Build GRCh38
rs1007254633 Chr.19: 45180073-45180073 on Build GRCh38
rs932719183 Chr.19: 45180100-45180100 on Build GRCh38
rs1009018071 Chr.19: 45179772-45179772 on Build GRCh38
rs950492754 Chr.19: 45179901-45179901 on Build GRCh38
rs928621630 Chr.19: 45179999-45179999 on Build GRCh38
rs781362128 Chr.19: 45179928-45179928 on Build GRCh38
rs750170358 Chr.19: 45179916-45179916 on Build GRCh38
rs886054491 Chr.19: 45179974-45179974 on Build GRCh38
rs561086658 Chr.19: 45179850-45179850 on Build GRCh38
rs948696809 Chr.19: 45179745-45179745 on Build GRCh38
rs770932040 Chr.19: 45179940-45179940 on Build GRCh38
rs377178343 Chr.19: 45179926-45179926 on Build GRCh38
rs187399565 Chr.19: 45179933-45179933 on Build GRCh38
rs281865116 Chr.19: 45179744-45179744 on Build GRCh38
rs971751005 Chr.19: 45180011-45180011 on Build GRCh38
rs1026203488 Chr.19: 45180117-45180117 on Build GRCh38
rs947548441 Chr.19: 45180020-45180020 on Build GRCh38
rs776702011 Chr.19: 45179773-45179773 on Build GRCh38
rs781620180 Chr.19: 45179838-45179838 on Build GRCh38
rs762987928 Chr.19: 45179863-45179863 on Build GRCh38
rs768841499 Chr.19: 45179835-45179835 on Build GRCh38
rs891971173 Chr.19: 45180014-45180014 on Build GRCh38
rs772728768 Chr.19: 45179746-45179746 on Build GRCh38
rs142688123 Chr.19: 45179905-45179905 on Build GRCh38
rs745352480 Chr.19: 45179809-45179809 on Build GRCh38
rs763757414 Chr.19: 45179902-45179902 on Build GRCh38
rs903581380 Chr.19: 45180045-45180045 on Build GRCh38
rs1053258669 Chr.19: 45180005-45180005 on Build GRCh38
rs145239205 Chr.19: 45179896-45179896 on Build GRCh38
rs529880074 Chr.19: 45179885-45179885 on Build GRCh38
rs6509200 Chr.19: 45180190-45180190 on Build GRCh38
rs748400285 Chr.19: 45179895-45179896 on Build GRCh38
rs975969159 Chr.19: 45179880-45179880 on Build GRCh38
rs771058698 Chr.19: 45179874-45179874 on Build GRCh38
rs1017701626 Chr.19: 45180080-45180080 on Build GRCh38
rs752670161 Chr.19: 45179791-45179791 on Build GRCh38
rs532054271 Chr.19: 45179954-45179954 on Build GRCh38

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