Product Details

Primer Sequences
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Primer Chromosome Location
Chr.10: 100280057-100280314 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
BLOC1S2
Entrez Gene ID
282991
Gene Name
biogenesis of lysosomal organelles complex 1 subunit 2
Gene Aliases
BLOS2, BORCS2, CEAP, CEAP11
UniGene
Hs.34906
Gene Chromosome Location
Chr.10: 100273278-100286712 on Build GRCh38
Transcripts
NM_001001342.2 NM_001282436.1 NM_001282437.1 NM_001282438.1 NM_001282439.1 NM_173809.4 XM_017016102.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
2057859 c.296C>A p.A99D Chr.10: 100280225-100280225 on Build GRCh38
6900390 c.396G>T p.L132L Chr.10: 100280125-100280125 on Build GRCh38
5049827 c.297T>G p.A99A Chr.10: 100280224-100280224 on Build GRCh38
913897 c.371A>C p.K124T Chr.10: 100280150-100280150 on Build GRCh38
6611791 c.393_394insA p.L132fs*>12 Chr.10: 100280127-100280128 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs756774599 Chr.10: 100280176-100280176 on Build GRCh38
rs978000401 Chr.10: 100280102-100280102 on Build GRCh38
rs773438025 Chr.10: 100280247-100280247 on Build GRCh38
rs745528768 Chr.10: 100280185-100280185 on Build GRCh38
rs371288906 Chr.10: 100280110-100280110 on Build GRCh38
rs780830258 Chr.10: 100280184-100280184 on Build GRCh38
rs760388600 Chr.10: 100280278-100280278 on Build GRCh38
rs766784503 Chr.10: 100280254-100280254 on Build GRCh38
rs763031895 Chr.10: 100280089-100280089 on Build GRCh38
rs746582049 Chr.10: 100280141-100280141 on Build GRCh38
rs767083527 Chr.10: 100280269-100280269 on Build GRCh38
rs549994140 Chr.10: 100280098-100280098 on Build GRCh38
rs749231027 Chr.10: 100280210-100280210 on Build GRCh38
rs755362779 Chr.10: 100280236-100280236 on Build GRCh38
rs990130964 Chr.10: 100280126-100280126 on Build GRCh38
rs200208816 Chr.10: 100280118-100280118 on Build GRCh38
rs200943183 Chr.10: 100280085-100280085 on Build GRCh38
rs755465183 Chr.10: 100280262-100280262 on Build GRCh38
rs754269774 Chr.10: 100280260-100280260 on Build GRCh38
rs774440371 Chr.10: 100280226-100280226 on Build GRCh38
rs767210186 Chr.10: 100280117-100280117 on Build GRCh38
rs568162653 Chr.10: 100280116-100280116 on Build GRCh38
rs762110612 Chr.10: 100280099-100280099 on Build GRCh38
rs760858545 Chr.10: 100280248-100280248 on Build GRCh38
rs981523846 Chr.10: 100280179-100280179 on Build GRCh38
rs139127262 Chr.10: 100280195-100280195 on Build GRCh38
rs766737182 Chr.10: 100280252-100280252 on Build GRCh38
rs775187962 Chr.10: 100280202-100280202 on Build GRCh38
rs1041579899 Chr.10: 100280097-100280097 on Build GRCh38
rs768770232 Chr.10: 100280212-100280212 on Build GRCh38
rs749924074 Chr.10: 100280276-100280321 on Build GRCh38
rs779196940 Chr.10: 100280273-100280273 on Build GRCh38
rs149378090 Chr.10: 100280213-100280213 on Build GRCh38
rs750042790 Chr.10: 100280137-100280137 on Build GRCh38
rs371285720 Chr.10: 100280232-100280232 on Build GRCh38
rs764235884 Chr.10: 100280091-100280091 on Build GRCh38
rs928712470 Chr.10: 100280197-100280197 on Build GRCh38
rs761914140 Chr.10: 100280227-100280227 on Build GRCh38
rs750610650 Chr.10: 100280101-100280101 on Build GRCh38
rs553795540 Chr.10: 100280218-100280218 on Build GRCh38
rs765675812 Chr.10: 100280279-100280279 on Build GRCh38

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