Product Details

Primer Sequences
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Primer Chromosome Location
Chr.5: 78141051-78141562 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_005248619.4 XM_017010001.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
4796462 c.1621G>A p.A541T Chr.5: 78141172-78141172 on Build GRCh38
223010 c.1480G>A p.V494I Chr.5: 78141313-78141313 on Build GRCh38
7126006 c.1544C>T p.P515L Chr.5: 78141249-78141249 on Build GRCh38
6490532 c.1617G>A p.L539L Chr.5: 78141176-78141176 on Build GRCh38
4569235 c.1607T>A p.I536K Chr.5: 78141186-78141186 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs2052477 Chr.5: 78141518-78141518 on Build GRCh38
rs200769344 Chr.5: 78141188-78141188 on Build GRCh38
rs749690492 Chr.5: 78141098-78141098 on Build GRCh38
rs751564262 Chr.5: 78141289-78141289 on Build GRCh38
rs769963686 Chr.5: 78141347-78141349 on Build GRCh38
rs925298885 Chr.5: 78141492-78141492 on Build GRCh38
rs769035767 Chr.5: 78141210-78141210 on Build GRCh38
rs552010185 Chr.5: 78141089-78141089 on Build GRCh38
rs374194943 Chr.5: 78141123-78141123 on Build GRCh38
rs745350980 Chr.5: 78141092-78141092 on Build GRCh38
rs753974452 Chr.5: 78141129-78141129 on Build GRCh38
rs377659889 Chr.5: 78141222-78141222 on Build GRCh38
rs755748656 Chr.5: 78141314-78141314 on Build GRCh38
rs200691255 Chr.5: 78141342-78141342 on Build GRCh38
rs778305512 Chr.5: 78141338-78141338 on Build GRCh38
rs778228951 Chr.5: 78141348-78141348 on Build GRCh38
rs750231255 Chr.5: 78141300-78141300 on Build GRCh38
rs772731305 Chr.5: 78141084-78141084 on Build GRCh38
rs753253754 Chr.5: 78141324-78141324 on Build GRCh38
rs56119917 Chr.5: 78141468-78141468 on Build GRCh38
rs565501703 Chr.5: 78141091-78141091 on Build GRCh38
rs767232602 Chr.5: 78141298-78141298 on Build GRCh38
rs193920974 Chr.5: 78141267-78141267 on Build GRCh38
rs766343354 Chr.5: 78141124-78141125 on Build GRCh38
rs773747361 Chr.5: 78141218-78141218 on Build GRCh38
rs779511911 Chr.5: 78141213-78141213 on Build GRCh38
rs762301369 Chr.5: 78141108-78141108 on Build GRCh38
rs754562140 Chr.5: 78141337-78141337 on Build GRCh38
rs771295022 Chr.5: 78141234-78141234 on Build GRCh38
rs563512609 Chr.5: 78141131-78141131 on Build GRCh38
rs762743311 Chr.5: 78141147-78141147 on Build GRCh38
rs567754566 Chr.5: 78141204-78141204 on Build GRCh38
rs371882755 Chr.5: 78141511-78141511 on Build GRCh38
rs777003289 Chr.5: 78141378-78141378 on Build GRCh38
rs1028840294 Chr.5: 78141251-78141251 on Build GRCh38
rs192891497 Chr.5: 78141493-78141493 on Build GRCh38
rs139969050 Chr.5: 78141316-78141316 on Build GRCh38
rs1016333964 Chr.5: 78141183-78141183 on Build GRCh38
rs978230742 Chr.5: 78141388-78141388 on Build GRCh38
rs566820678 Chr.5: 78141436-78141436 on Build GRCh38
rs987228392 Chr.5: 78141310-78141310 on Build GRCh38
rs560039808 Chr.5: 78141078-78141078 on Build GRCh38
rs779746641 Chr.5: 78141315-78141315 on Build GRCh38
rs757116850 Chr.5: 78141156-78141156 on Build GRCh38
rs771276691 Chr.5: 78141365-78141365 on Build GRCh38
rs528784338 Chr.5: 78141079-78141079 on Build GRCh38
rs369936994 Chr.5: 78141114-78141114 on Build GRCh38
rs762996232 Chr.5: 78141120-78141121 on Build GRCh38
rs780800105 Chr.5: 78141166-78141166 on Build GRCh38
rs748434719 Chr.5: 78141214-78141214 on Build GRCh38
rs747437913 Chr.5: 78141351-78141351 on Build GRCh38
rs373292406 Chr.5: 78141344-78141344 on Build GRCh38
rs551131609 Chr.5: 78141115-78141115 on Build GRCh38
rs769217143 Chr.5: 78141100-78141100 on Build GRCh38
rs772520218 Chr.5: 78141217-78141217 on Build GRCh38
rs536694453 Chr.5: 78141293-78141293 on Build GRCh38
rs374012756 Chr.5: 78141117-78141117 on Build GRCh38
rs2052478 Chr.5: 78141467-78141467 on Build GRCh38
rs776561296 Chr.5: 78141240-78141240 on Build GRCh38
rs763745893 Chr.5: 78141184-78141184 on Build GRCh38
rs774562787 Chr.5: 78141102-78141102 on Build GRCh38
rs766845647 Chr.5: 78141232-78141232 on Build GRCh38
rs925258020 Chr.5: 78141416-78141419 on Build GRCh38
rs571822035 Chr.5: 78141524-78141524 on Build GRCh38
rs531105594 Chr.5: 78141094-78141094 on Build GRCh38
rs779570352 Chr.5: 78141095-78141095 on Build GRCh38
rs748733002 Chr.5: 78141191-78141191 on Build GRCh38
rs745914876 Chr.5: 78141368-78141368 on Build GRCh38
rs2302977 Chr.5: 78141447-78141447 on Build GRCh38
rs764152445 Chr.5: 78141150-78141150 on Build GRCh38
rs2302978 Chr.5: 78141209-78141209 on Build GRCh38
rs121908906 Chr.5: 78141268-78141268 on Build GRCh38
rs974929323 Chr.5: 78141366-78141366 on Build GRCh38
rs1026126712 Chr.5: 78141205-78141205 on Build GRCh38
rs376737882 Chr.5: 78141185-78141185 on Build GRCh38
rs984699517 Chr.5: 78141236-78141236 on Build GRCh38
rs772150537 Chr.5: 78141109-78141109 on Build GRCh38
rs933047806 Chr.5: 78141431-78141431 on Build GRCh38
rs751309066 Chr.5: 78141151-78141151 on Build GRCh38
rs925341963 Chr.5: 78141075-78141075 on Build GRCh38

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