Product Details

Primer Sequences
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Primer Chromosome Location
Chr.11: 61959843-61960116 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_011545233.2 XM_017018228.1 XM_017018229.1 XM_017018230.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
1289585 c.854C>T p.P285L Chr.11: 61959977-61959977 on Build GRCh38
3687426 c.917T>A p.I306N Chr.11: 61960040-61960040 on Build GRCh38
1355300 c.1046C>A p.A349D Chr.11: 61959989-61959989 on Build GRCh38
2038056 c.1079T>C p.M360T Chr.11: 61960022-61960022 on Build GRCh38
3687427 c.1097T>A p.I366N Chr.11: 61960040-61960040 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs144231113 Chr.11: 61959897-61959897 on Build GRCh38
rs201386186 Chr.11: 61959935-61959935 on Build GRCh38
rs747224737 Chr.11: 61959929-61959929 on Build GRCh38
rs769204186 Chr.11: 61960060-61960060 on Build GRCh38
rs17854138 Chr.11: 61960013-61960013 on Build GRCh38
rs372081341 Chr.11: 61959945-61959945 on Build GRCh38
rs62640560 Chr.11: 61959871-61959871 on Build GRCh38
rs547017234 Chr.11: 61959927-61959927 on Build GRCh38
rs774668020 Chr.11: 61959874-61959875 on Build GRCh38
rs868782075 Chr.11: 61959914-61959914 on Build GRCh38
rs753718224 Chr.11: 61959886-61959886 on Build GRCh38
rs372888650 Chr.11: 61960091-61960091 on Build GRCh38
rs757536535 Chr.11: 61959934-61959934 on Build GRCh38
rs147228028 Chr.11: 61960030-61960030 on Build GRCh38
rs774215585 Chr.11: 61960085-61960085 on Build GRCh38
rs770425433 Chr.11: 61960082-61960082 on Build GRCh38
rs772878651 Chr.11: 61959871-61959871 on Build GRCh38
rs368356148 Chr.11: 61960007-61960007 on Build GRCh38
rs773350464 Chr.11: 61960088-61960089 on Build GRCh38
rs148326372 Chr.11: 61959944-61959944 on Build GRCh38
rs759411214 Chr.11: 61959984-61959984 on Build GRCh38
rs368387447 Chr.11: 61959917-61959917 on Build GRCh38
rs752756768 Chr.11: 61959911-61959911 on Build GRCh38
rs765333391 Chr.11: 61959906-61959906 on Build GRCh38
rs777134211 Chr.11: 61960062-61960062 on Build GRCh38
rs1045042331 Chr.11: 61959976-61959976 on Build GRCh38
rs939414505 Chr.11: 61959996-61959996 on Build GRCh38
rs950865015 Chr.11: 61959981-61959981 on Build GRCh38
rs764237648 Chr.11: 61960008-61960008 on Build GRCh38
rs762072466 Chr.11: 61959976-61959976 on Build GRCh38
rs121918287 Chr.11: 61959892-61959892 on Build GRCh38
rs747612440 Chr.11: 61959965-61959965 on Build GRCh38
rs766115316 Chr.11: 61959968-61959968 on Build GRCh38
rs746149795 Chr.11: 61960021-61960021 on Build GRCh38
rs267603070 Chr.11: 61959896-61959896 on Build GRCh38
rs746598277 Chr.11: 61960072-61960072 on Build GRCh38
rs281865282 Chr.11: 61959969-61959969 on Build GRCh38
rs727503825 Chr.11: 61959950-61959950 on Build GRCh38
rs766059700 Chr.11: 61959884-61959884 on Build GRCh38
rs998796745 Chr.11: 61959882-61959882 on Build GRCh38
rs563488311 Chr.11: 61959980-61959980 on Build GRCh38
rs147409760 Chr.11: 61959997-61959997 on Build GRCh38
rs767102229 Chr.11: 61959870-61959870 on Build GRCh38
rs778090117 Chr.11: 61959924-61959924 on Build GRCh38
rs376532673 Chr.11: 61959869-61959871 on Build GRCh38
rs963459720 Chr.11: 61959942-61959942 on Build GRCh38
rs139637557 Chr.11: 61960006-61960006 on Build GRCh38
rs760480676 Chr.11: 61959880-61959880 on Build GRCh38
rs772270802 Chr.11: 61960075-61960075 on Build GRCh38
rs199960774 Chr.11: 61959898-61959898 on Build GRCh38
rs751707411 Chr.11: 61960010-61960010 on Build GRCh38
rs202234687 Chr.11: 61959967-61959967 on Build GRCh38
rs948034277 Chr.11: 61959974-61959974 on Build GRCh38
rs373015881 Chr.11: 61959874-61959876 on Build GRCh38
rs145212203 Chr.11: 61960023-61960023 on Build GRCh38
rs376123204 Chr.11: 61959961-61959961 on Build GRCh38
rs1801390 Chr.11: 61959966-61959966 on Build GRCh38

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