Product Details

Primer Sequences
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Primer Chromosome Location
Chr.11: 61958185-61958410 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
BEST1
Entrez Gene ID
7439
Gene Name
bestrophin 1
Gene Aliases
ARB, BEST, BMD, RP50, TU15B, VMD2
UniGene
Hs.524910
Gene Chromosome Location
Chr.11: 61946722-61964465 on Build GRCh38
Transcripts
NM_001139443.1 NM_001300786.1 NM_001300787.1 NM_004183.3 NR_134580.1 XM_005274210.3 XM_005274215.3 XM_005274216.3 XM_005274219.3 XM_005274221.3 XM_011545229.2 XM_011545230.2 XM_017018228.1 XM_017018229.1 XM_017018230.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
4558942 c.606G>A p.K202K Chr.11: 61958217-61958217 on Build GRCh38
6611316 c.841_843delTTC p.F283delF Chr.11: 61958272-61958274 on Build GRCh38
6611315 c.661_663delTTC p.F223delF Chr.11: 61958272-61958274 on Build GRCh38
6611322 c.830C>T p.T277M Chr.11: 61958261-61958261 on Build GRCh38
6611321 c.650C>T p.T217M Chr.11: 61958261-61958261 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs894827773 Chr.11: 61958345-61958345 on Build GRCh38
rs559001912 Chr.11: 61958334-61958334 on Build GRCh38
rs759678509 Chr.11: 61958253-61958253 on Build GRCh38
rs746838151 Chr.11: 61958325-61958325 on Build GRCh38
rs753334817 Chr.11: 61958291-61958291 on Build GRCh38
rs368062221 Chr.11: 61958370-61958370 on Build GRCh38
rs281865532 Chr.11: 61958278-61958280 on Build GRCh38
rs758089654 Chr.11: 61958304-61958305 on Build GRCh38
rs281865248 Chr.11: 61958259-61958259 on Build GRCh38
rs199745000 Chr.11: 61958283-61958283 on Build GRCh38
rs770850193 Chr.11: 61958328-61958328 on Build GRCh38
rs62639270 Chr.11: 61958252-61958252 on Build GRCh38
rs769883186 Chr.11: 61958346-61958346 on Build GRCh38
rs778383234 Chr.11: 61958298-61958298 on Build GRCh38
rs879117528 Chr.11: 61958366-61958366 on Build GRCh38
rs758028526 Chr.11: 61958314-61958314 on Build GRCh38
rs747841550 Chr.11: 61958240-61958240 on Build GRCh38
rs572374463 Chr.11: 61958347-61958347 on Build GRCh38
rs771924494 Chr.11: 61958241-61958241 on Build GRCh38
rs370276003 Chr.11: 61958288-61958288 on Build GRCh38
rs957539612 Chr.11: 61958313-61958313 on Build GRCh38
rs727503824 Chr.11: 61958282-61958282 on Build GRCh38
rs794727864 Chr.11: 61958228-61958228 on Build GRCh38
rs538983103 Chr.11: 61958330-61958330 on Build GRCh38
rs281865276 Chr.11: 61958254-61958254 on Build GRCh38
rs376577490 Chr.11: 61958285-61958285 on Build GRCh38
rs777471862 Chr.11: 61958330-61958330 on Build GRCh38
rs754551404 Chr.11: 61958296-61958296 on Build GRCh38
rs768082286 Chr.11: 61958369-61958369 on Build GRCh38
rs770903527 Chr.11: 61958248-61958248 on Build GRCh38
rs62639274 Chr.11: 61958262-61958262 on Build GRCh38
rs778715415 Chr.11: 61958235-61958235 on Build GRCh38
rs778645644 Chr.11: 61958208-61958208 on Build GRCh38
rs1041871499 Chr.11: 61958232-61958232 on Build GRCh38
rs747866946 Chr.11: 61958302-61958302 on Build GRCh38
rs777602198 Chr.11: 61958319-61958319 on Build GRCh38
rs768421538 Chr.11: 61958217-61958217 on Build GRCh38
rs775791299 Chr.11: 61958261-61958261 on Build GRCh38
rs764547020 Chr.11: 61958270-61958270 on Build GRCh38
rs111403751 Chr.11: 61958389-61958389 on Build GRCh38
rs754500189 Chr.11: 61958375-61958375 on Build GRCh38
rs764267709 Chr.11: 61958350-61958350 on Build GRCh38
rs866989280 Chr.11: 61958236-61958236 on Build GRCh38
rs146282323 Chr.11: 61958349-61958349 on Build GRCh38
rs536333519 Chr.11: 61958246-61958246 on Build GRCh38
rs774778674 Chr.11: 61958359-61958359 on Build GRCh38
rs1012296193 Chr.11: 61958354-61958354 on Build GRCh38
rs370397270 Chr.11: 61958244-61958244 on Build GRCh38
rs762277917 Chr.11: 61958361-61958361 on Build GRCh38

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