Product Details

Primer Sequences
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Primer Chromosome Location
Chr.5: 78015361-78015626 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
7355887 c.2995G>A p.V999M Chr.5: 78015546-78015546 on Build GRCh38
7176094 c.3020C>G p.S1007C Chr.5: 78015521-78015521 on Build GRCh38
1070335 c.3126A>G p.I1042M Chr.5: 78015415-78015415 on Build GRCh38
1070336 c.3066C>A p.I1022I Chr.5: 78015475-78015475 on Build GRCh38
293599 c.3073_3075delAAG p.K1025delK Chr.5: 78015466-78015468 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs758895536 Chr.5: 78015444-78015444 on Build GRCh38
rs772790114 Chr.5: 78015551-78015552 on Build GRCh38
rs917263190 Chr.5: 78015597-78015597 on Build GRCh38
rs542809978 Chr.5: 78015454-78015454 on Build GRCh38
rs776493933 Chr.5: 78015420-78015420 on Build GRCh38
rs765408464 Chr.5: 78015581-78015581 on Build GRCh38
rs764601104 Chr.5: 78015449-78015449 on Build GRCh38
rs757690159 Chr.5: 78015456-78015456 on Build GRCh38
rs202232687 Chr.5: 78015563-78015563 on Build GRCh38
rs780143358 Chr.5: 78015497-78015497 on Build GRCh38
rs866392423 Chr.5: 78015452-78015452 on Build GRCh38
rs746152289 Chr.5: 78015487-78015487 on Build GRCh38
rs914405574 Chr.5: 78015426-78015426 on Build GRCh38
rs760558628 Chr.5: 78015407-78015407 on Build GRCh38
rs372831527 Chr.5: 78015392-78015392 on Build GRCh38
rs781365567 Chr.5: 78015479-78015479 on Build GRCh38
rs1034040976 Chr.5: 78015547-78015547 on Build GRCh38
rs764848036 Chr.5: 78015423-78015423 on Build GRCh38
rs758933782 Chr.5: 78015422-78015422 on Build GRCh38
rs563761882 Chr.5: 78015397-78015397 on Build GRCh38
rs773072688 Chr.5: 78015406-78015406 on Build GRCh38
rs191616060 Chr.5: 78015405-78015405 on Build GRCh38
rs766116144 Chr.5: 78015409-78015409 on Build GRCh38
rs756314568 Chr.5: 78015488-78015488 on Build GRCh38
rs764580909 Chr.5: 78015585-78015585 on Build GRCh38
rs759178337 Chr.5: 78015560-78015560 on Build GRCh38
rs769957838 Chr.5: 78015391-78015391 on Build GRCh38
rs752168454 Chr.5: 78015436-78015436 on Build GRCh38
rs111935323 Chr.5: 78015516-78015518 on Build GRCh38
rs554702848 Chr.5: 78015477-78015477 on Build GRCh38
rs146503597 Chr.5: 78015546-78015546 on Build GRCh38
rs773340562 Chr.5: 78015507-78015507 on Build GRCh38
rs749330122 Chr.5: 78015500-78015500 on Build GRCh38
rs770886275 Chr.5: 78015523-78015523 on Build GRCh38
rs772075926 Chr.5: 78015501-78015501 on Build GRCh38

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