Product Details

Primer Sequences
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Primer Chromosome Location
Chr.11: 61951722-61951947 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_005274216.3 XM_005274219.3 XM_005274221.3 XM_011545229.2 XM_011545230.2 XM_017018229.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
5050953 c.140G>A p.R47H Chr.11: 61951946-61951946 on Build GRCh38
3752558 c.109T>C p.L37L Chr.11: 61951915-61951915 on Build GRCh38
3727942 c.116T>C p.F39S Chr.11: 61951922-61951922 on Build GRCh38
4964833 c.61C>A p.L21M Chr.11: 61951867-61951867 on Build GRCh38
4665630 c.31A>G p.N11D Chr.11: 61951837-61951837 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs281865204 Chr.11: 61951823-61951823 on Build GRCh38
rs748684128 Chr.11: 61951883-61951883 on Build GRCh38
rs121918285 Chr.11: 61951893-61951893 on Build GRCh38
rs536791019 Chr.11: 61951750-61951750 on Build GRCh38
rs886041141 Chr.11: 61951843-61951843 on Build GRCh38
rs199508634 Chr.11: 61951826-61951826 on Build GRCh38
rs778023643 Chr.11: 61951870-61951870 on Build GRCh38
rs768284216 Chr.11: 61951884-61951884 on Build GRCh38
rs377084214 Chr.11: 61951781-61951781 on Build GRCh38
rs281865211 Chr.11: 61951856-61951856 on Build GRCh38
rs758726044 Chr.11: 61951868-61951868 on Build GRCh38
rs281865213 Chr.11: 61951878-61951878 on Build GRCh38
rs955214914 Chr.11: 61951914-61951914 on Build GRCh38
rs281865218 Chr.11: 61951895-61951895 on Build GRCh38
rs770760912 Chr.11: 61951917-61951917 on Build GRCh38
rs886041142 Chr.11: 61951909-61951909 on Build GRCh38
rs1011302811 Chr.11: 61951899-61951899 on Build GRCh38
rs281865216 Chr.11: 61951887-61951887 on Build GRCh38
rs1018427385 Chr.11: 61951922-61951922 on Build GRCh38
rs773151223 Chr.11: 61951842-61951842 on Build GRCh38
rs994248373 Chr.11: 61951903-61951903 on Build GRCh38
rs774844614 Chr.11: 61951783-61951783 on Build GRCh38
rs769300880 Chr.11: 61951782-61951782 on Build GRCh38
rs765385264 Chr.11: 61951861-61951861 on Build GRCh38
rs772120468 Chr.11: 61951759-61951759 on Build GRCh38
rs281865215 Chr.11: 61951880-61951880 on Build GRCh38
rs752923595 Chr.11: 61951862-61951862 on Build GRCh38
rs772850879 Chr.11: 61951912-61951912 on Build GRCh38
rs281865531 Chr.11: 61951839-61951839 on Build GRCh38
rs748873124 Chr.11: 61951799-61951799 on Build GRCh38
rs281865214 Chr.11: 61951879-61951879 on Build GRCh38
rs778186805 Chr.11: 61951765-61951765 on Build GRCh38
rs368383940 Chr.11: 61951817-61951817 on Build GRCh38
rs771898125 Chr.11: 61951908-61951908 on Build GRCh38
rs755109384 Chr.11: 61951858-61951858 on Build GRCh38
rs28940276 Chr.11: 61951831-61951831 on Build GRCh38
rs766379510 Chr.11: 61951850-61951850 on Build GRCh38
rs556703749 Chr.11: 61951752-61951752 on Build GRCh38
rs281865207 Chr.11: 61951835-61951835 on Build GRCh38
rs281865209 Chr.11: 61951844-61951844 on Build GRCh38
rs281865210 Chr.11: 61951853-61951853 on Build GRCh38
rs281865212 Chr.11: 61951867-61951867 on Build GRCh38
rs753857088 Chr.11: 61951851-61951851 on Build GRCh38
rs281865205 Chr.11: 61951832-61951832 on Build GRCh38
rs281865208 Chr.11: 61951838-61951838 on Build GRCh38
rs373950010 Chr.11: 61951905-61951905 on Build GRCh38
rs570130715 Chr.11: 61951753-61951753 on Build GRCh38
rs1800007 Chr.11: 61951915-61951915 on Build GRCh38
rs907161461 Chr.11: 61951814-61951814 on Build GRCh38
rs281865206 Chr.11: 61951834-61951834 on Build GRCh38
rs281865217 Chr.11: 61951891-61951891 on Build GRCh38
rs948545287 Chr.11: 61951757-61951757 on Build GRCh38
rs28940275 Chr.11: 61951822-61951822 on Build GRCh38

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