Product Details

Primer Sequences
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Primer Chromosome Location
Chr.11: 66515606-66516103 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
BBS1
Entrez Gene ID
582
Gene Name
Bardet-Biedl syndrome 1
Gene Aliases
BBS2L2
UniGene
Hs.502915
Gene Chromosome Location
Chr.11: 66510648-66533613 on Build GRCh38
Transcripts
NM_024649.4

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
3452101 c.591G>A p.R197R Chr.11: 66515693-66515693 on Build GRCh38
6637353 c.563A>G p.Q188R Chr.11: 66515905-66515905 on Build GRCh38
238946 c.485C>T p.T162M Chr.11: 66515698-66515698 on Build GRCh38
212194 c.587G>A p.R196Q Chr.11: 66515929-66515929 on Build GRCh38
223476 c.547G>A p.E183K Chr.11: 66515889-66515889 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs373250064 Chr.11: 66515794-66515794 on Build GRCh38
rs771281867 Chr.11: 66515930-66515930 on Build GRCh38
rs941430837 Chr.11: 66515743-66515743 on Build GRCh38
rs375567052 Chr.11: 66515751-66515751 on Build GRCh38
rs752715141 Chr.11: 66515678-66515678 on Build GRCh38
rs754132794 Chr.11: 66515820-66515820 on Build GRCh38
rs779770809 Chr.11: 66515699-66515699 on Build GRCh38
rs780889492 Chr.11: 66515964-66515965 on Build GRCh38
rs749036245 Chr.11: 66515908-66515908 on Build GRCh38
rs746777262 Chr.11: 66515751-66515751 on Build GRCh38
rs535392359 Chr.11: 66515984-66515984 on Build GRCh38
rs779108638 Chr.11: 66515677-66515677 on Build GRCh38
rs769372525 Chr.11: 66515978-66515978 on Build GRCh38
rs781144584 Chr.11: 66515693-66515693 on Build GRCh38
rs539484942 Chr.11: 66515841-66515841 on Build GRCh38
rs778672601 Chr.11: 66515911-66515911 on Build GRCh38
rs748946143 Chr.11: 66515709-66515709 on Build GRCh38
rs566796294 Chr.11: 66515946-66515946 on Build GRCh38
rs142769864 Chr.11: 66515929-66515929 on Build GRCh38
rs35306986 Chr.11: 66515887-66515888 on Build GRCh38
rs969252581 Chr.11: 66515692-66515692 on Build GRCh38
rs530867570 Chr.11: 66515773-66515773 on Build GRCh38
rs750361238 Chr.11: 66515878-66515878 on Build GRCh38
rs745441247 Chr.11: 66515965-66515965 on Build GRCh38
rs777749704 Chr.11: 66515682-66515682 on Build GRCh38
rs759852344 Chr.11: 66515944-66515944 on Build GRCh38
rs747846164 Chr.11: 66515921-66515921 on Build GRCh38
rs758473104 Chr.11: 66515864-66515864 on Build GRCh38
rs771595018 Chr.11: 66515925-66515925 on Build GRCh38
rs768013141 Chr.11: 66515649-66515649 on Build GRCh38
rs367706684 Chr.11: 66515689-66515689 on Build GRCh38
rs1043360776 Chr.11: 66515941-66515941 on Build GRCh38
rs184553602 Chr.11: 66516046-66516046 on Build GRCh38
rs904173559 Chr.11: 66515996-66515996 on Build GRCh38
rs777765120 Chr.11: 66515868-66515868 on Build GRCh38
rs1057516933 Chr.11: 66515692-66515692 on Build GRCh38
rs745832920 Chr.11: 66515696-66515696 on Build GRCh38
rs762756161 Chr.11: 66516044-66516044 on Build GRCh38
rs934343219 Chr.11: 66516011-66516011 on Build GRCh38
rs201604140 Chr.11: 66515630-66515630 on Build GRCh38
rs1026985396 Chr.11: 66515727-66515727 on Build GRCh38
rs777143614 Chr.11: 66515931-66515931 on Build GRCh38
rs372673129 Chr.11: 66515893-66515893 on Build GRCh38
rs969304903 Chr.11: 66516039-66516039 on Build GRCh38
rs771517209 Chr.11: 66515732-66515732 on Build GRCh38
rs148576114 Chr.11: 66515698-66515698 on Build GRCh38
rs770545908 Chr.11: 66515939-66515940 on Build GRCh38
rs201519409 Chr.11: 66515755-66515755 on Build GRCh38
rs143038314 Chr.11: 66515664-66515664 on Build GRCh38
rs761360440 Chr.11: 66515728-66515728 on Build GRCh38
rs200532823 Chr.11: 66515665-66515665 on Build GRCh38
rs763144601 Chr.11: 66515971-66515971 on Build GRCh38
rs774163850 Chr.11: 66515722-66515722 on Build GRCh38
rs201077577 Chr.11: 66515653-66515653 on Build GRCh38
rs191296122 Chr.11: 66515633-66515633 on Build GRCh38
rs149023846 Chr.11: 66515635-66515635 on Build GRCh38
rs377159794 Chr.11: 66515928-66515928 on Build GRCh38
rs148207682 Chr.11: 66515896-66515896 on Build GRCh38
rs1057516502 Chr.11: 66515859-66515859 on Build GRCh38
rs999248230 Chr.11: 66515912-66515912 on Build GRCh38
rs759903743 Chr.11: 66515821-66515821 on Build GRCh38
rs768596720 Chr.11: 66515909-66515909 on Build GRCh38
rs761064867 Chr.11: 66515663-66515663 on Build GRCh38
rs2276406 Chr.11: 66515786-66515786 on Build GRCh38
rs752227393 Chr.11: 66515827-66515827 on Build GRCh38
rs755258346 Chr.11: 66515670-66515670 on Build GRCh38
rs1023587736 Chr.11: 66515991-66515991 on Build GRCh38
rs879223530 Chr.11: 66515815-66515815 on Build GRCh38
rs775666093 Chr.11: 66515958-66515958 on Build GRCh38
rs369612079 Chr.11: 66515787-66515787 on Build GRCh38
rs765393224 Chr.11: 66515826-66515826 on Build GRCh38

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