Product Details

Primer Sequences
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Primer Chromosome Location
Chr.5: 78034272-78034785 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
AP3B1
Entrez Gene ID
8546
Gene Name
adaptor related protein complex 3 beta 1 subunit
Gene Aliases
ADTB3, ADTB3A, HPS, HPS2, PE
UniGene
Hs.532091
Gene Chromosome Location
Chr.5: 78002326-78294755 on Build GRCh38
Transcripts
NM_001271769.1 NM_003664.4 XM_005248618.3 XM_017010001.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
4453402 c.2881A>T p.S961C Chr.5: 78034374-78034374 on Build GRCh38
4829398 c.2876C>A p.T959N Chr.5: 78034379-78034379 on Build GRCh38
6387888 c.2878G>T p.A960S Chr.5: 78034377-78034377 on Build GRCh38
6991981 c.2813C>G p.S938C Chr.5: 78034442-78034442 on Build GRCh38
7169136 c.2824G>C p.E942Q Chr.5: 78034431-78034431 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs762007305 Chr.5: 78034475-78034476 on Build GRCh38
rs144997821 Chr.5: 78034655-78034655 on Build GRCh38
rs761183683 Chr.5: 78034381-78034381 on Build GRCh38
rs975874381 Chr.5: 78034583-78034583 on Build GRCh38
rs62001052 Chr.5: 78034375-78034375 on Build GRCh38
rs1002409922 Chr.5: 78034744-78034744 on Build GRCh38
rs750377910 Chr.5: 78034365-78034365 on Build GRCh38
rs201884041 Chr.5: 78034469-78034469 on Build GRCh38
rs772616657 Chr.5: 78034339-78034339 on Build GRCh38
rs375734026 Chr.5: 78034314-78034314 on Build GRCh38
rs766697995 Chr.5: 78034342-78034342 on Build GRCh38
rs978298373 Chr.5: 78034428-78034428 on Build GRCh38
rs759790870 Chr.5: 78034348-78034348 on Build GRCh38
rs951728959 Chr.5: 78034530-78034530 on Build GRCh38
rs776716690 Chr.5: 78034334-78034335 on Build GRCh38
rs1011352235 Chr.5: 78034430-78034430 on Build GRCh38
rs377552274 Chr.5: 78034480-78034480 on Build GRCh38
rs897419306 Chr.5: 78034602-78034602 on Build GRCh38
rs752764966 Chr.5: 78034351-78034351 on Build GRCh38
rs747424975 Chr.5: 78034453-78034453 on Build GRCh38
rs1026512873 Chr.5: 78034507-78034507 on Build GRCh38
rs905468164 Chr.5: 78034441-78034441 on Build GRCh38
rs934521841 Chr.5: 78034656-78034656 on Build GRCh38
rs995795561 Chr.5: 78034629-78034629 on Build GRCh38
rs765422088 Chr.5: 78034684-78034684 on Build GRCh38
rs1022482616 Chr.5: 78034433-78034433 on Build GRCh38
rs754186688 Chr.5: 78034559-78034559 on Build GRCh38
rs532571023 Chr.5: 78034570-78034570 on Build GRCh38
rs1002296977 Chr.5: 78034443-78034443 on Build GRCh38
rs754568955 Chr.5: 78034410-78034410 on Build GRCh38
rs2291514 Chr.5: 78034498-78034498 on Build GRCh38
rs912620993 Chr.5: 78034399-78034399 on Build GRCh38
rs766815091 Chr.5: 78034505-78034505 on Build GRCh38
rs747649319 Chr.5: 78034426-78034426 on Build GRCh38
rs756099672 Chr.5: 78034374-78034374 on Build GRCh38
rs954052916 Chr.5: 78034731-78034731 on Build GRCh38
rs946713033 Chr.5: 78034700-78034700 on Build GRCh38
rs191219708 Chr.5: 78034318-78034318 on Build GRCh38
rs370943861 Chr.5: 78034340-78034340 on Build GRCh38
rs199910628 Chr.5: 78034411-78034411 on Build GRCh38
rs771499250 Chr.5: 78034464-78034464 on Build GRCh38
rs765560574 Chr.5: 78034349-78034349 on Build GRCh38
rs1003062090 Chr.5: 78034578-78034578 on Build GRCh38
rs2291515 Chr.5: 78034672-78034672 on Build GRCh38
rs1026953573 Chr.5: 78034367-78034367 on Build GRCh38
rs947720530 Chr.5: 78034519-78034519 on Build GRCh38
rs749089425 Chr.5: 78034386-78034386 on Build GRCh38
rs1043718038 Chr.5: 78034723-78034723 on Build GRCh38
rs984883007 Chr.5: 78034550-78034550 on Build GRCh38
rs772669160 Chr.5: 78034333-78034334 on Build GRCh38
rs1007291033 Chr.5: 78034755-78034755 on Build GRCh38
rs761328208 Chr.5: 78034332-78034332 on Build GRCh38
rs1053392898 Chr.5: 78034502-78034502 on Build GRCh38
rs974073430 Chr.5: 78034358-78034358 on Build GRCh38
rs773787690 Chr.5: 78034329-78034329 on Build GRCh38
rs544214699 Chr.5: 78034357-78034357 on Build GRCh38
rs777075775 Chr.5: 78034345-78034345 on Build GRCh38
rs552257742 Chr.5: 78034579-78034579 on Build GRCh38
rs1046168937 Chr.5: 78034545-78034545 on Build GRCh38
rs551374234 Chr.5: 78034546-78034547 on Build GRCh38
rs748894298 Chr.5: 78034316-78034316 on Build GRCh38
rs768332937 Chr.5: 78034317-78034317 on Build GRCh38
rs767460571 Chr.5: 78034361-78034361 on Build GRCh38
rs775896257 Chr.5: 78034494-78034494 on Build GRCh38
rs115340604 Chr.5: 78034449-78034449 on Build GRCh38
rs777067185 Chr.5: 78034466-78034466 on Build GRCh38
rs773742569 Chr.5: 78034450-78034450 on Build GRCh38

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