Product Details

Primer Sequences
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Primer Chromosome Location
Chr.15: 45605319-45605568 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
BLOC1S6
Entrez Gene ID
26258
Gene Name
biogenesis of lysosomal organelles complex 1 subunit 6
Gene Aliases
BLOS6, HPS9, PA, PALLID, PLDN
UniGene
Hs.7037
Gene Chromosome Location
Chr.15: 45587123-45609716 on Build GRCh38
Transcripts
NM_001311255.1 NM_001311256.1 NM_012388.3 NR_132350.1 NR_132351.1 NR_132352.1 NR_132353.1 NR_132354.1 NR_132355.1 NR_132356.1 NR_132357.1 NR_132358.1 NR_132359.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
5793953 c.313-1G>C p.? Chr.15: 45605427-45605427 on Build GRCh38
5849277 c.316G>T p.A106S Chr.15: 45605431-45605431 on Build GRCh38
107633 c.333T>C p.Y111Y Chr.15: 45605448-45605448 on Build GRCh38
2189681 c.332A>G p.Y111C Chr.15: 45605447-45605447 on Build GRCh38

SNP Detail

SNP ID Chromosome Location
rs926943964 Chr.15: 45605401-45605401 on Build GRCh38
rs757745229 Chr.15: 45605517-45605517 on Build GRCh38
rs760848853 Chr.15: 45605494-45605495 on Build GRCh38
rs760462749 Chr.15: 45605389-45605389 on Build GRCh38
rs752899247 Chr.15: 45605433-45605433 on Build GRCh38
rs779295610 Chr.15: 45605524-45605524 on Build GRCh38
rs762974622 Chr.15: 45605449-45605450 on Build GRCh38
rs893808566 Chr.15: 45605531-45605531 on Build GRCh38
rs1044157657 Chr.15: 45605400-45605400 on Build GRCh38
rs754178876 Chr.15: 45605516-45605516 on Build GRCh38
rs756391163 Chr.15: 45605440-45605440 on Build GRCh38
rs764171568 Chr.15: 45605523-45605523 on Build GRCh38
rs751617676 Chr.15: 45605424-45605424 on Build GRCh38
rs199640207 Chr.15: 45605413-45605413 on Build GRCh38
rs151047485 Chr.15: 45605448-45605448 on Build GRCh38
rs917438546 Chr.15: 45605348-45605348 on Build GRCh38
rs921709408 Chr.15: 45605508-45605508 on Build GRCh38
rs949800637 Chr.15: 45605357-45605357 on Build GRCh38
rs767664299 Chr.15: 45605431-45605431 on Build GRCh38
rs765107661 Chr.15: 45605419-45605419 on Build GRCh38
rs771058681 Chr.15: 45605447-45605447 on Build GRCh38
rs778078075 Chr.15: 45605476-45605476 on Build GRCh38
rs768568246 Chr.15: 45605390-45605390 on Build GRCh38
rs752754517 Chr.15: 45605482-45605483 on Build GRCh38
rs776611013 Chr.15: 45605402-45605402 on Build GRCh38
rs759539185 Chr.15: 45605430-45605430 on Build GRCh38
rs866748863 Chr.15: 45605488-45605488 on Build GRCh38
rs766488183 Chr.15: 45605481-45605482 on Build GRCh38
rs370118149 Chr.15: 45605445-45605445 on Build GRCh38

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