Product Details

Primer Sequences
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Primer Chromosome Location
Chr.11: 66519532-66519828 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
4146157 c.719C>A p.A240D Chr.11: 66519744-66519744 on Build GRCh38
4035740 c.699C>T p.P233P Chr.11: 66519724-66519724 on Build GRCh38
7422833 c.703-1G>A p.? Chr.11: 66519616-66519616 on Build GRCh38
5654532 c.597C>G p.V199V Chr.11: 66519622-66519622 on Build GRCh38
7422832 c.592-1G>A p.? Chr.11: 66519616-66519616 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs769098484 Chr.11: 66519767-66519767 on Build GRCh38
rs146052054 Chr.11: 66519641-66519641 on Build GRCh38
rs770503958 Chr.11: 66519630-66519630 on Build GRCh38
rs375121390 Chr.11: 66519694-66519694 on Build GRCh38
rs140086552 Chr.11: 66519707-66519707 on Build GRCh38
rs752374832 Chr.11: 66519712-66519712 on Build GRCh38
rs777250313 Chr.11: 66519724-66519724 on Build GRCh38
rs35520756 Chr.11: 66519725-66519725 on Build GRCh38
rs372141621 Chr.11: 66519631-66519631 on Build GRCh38
rs58447882 Chr.11: 66519593-66519593 on Build GRCh38
rs778903752 Chr.11: 66519597-66519597 on Build GRCh38
rs193922709 Chr.11: 66519695-66519695 on Build GRCh38
rs772270055 Chr.11: 66519776-66519776 on Build GRCh38
rs760846895 Chr.11: 66519784-66519784 on Build GRCh38
rs764165386 Chr.11: 66519671-66519671 on Build GRCh38
rs919419277 Chr.11: 66519729-66519729 on Build GRCh38
rs764202615 Chr.11: 66519709-66519709 on Build GRCh38
rs774944051 Chr.11: 66519608-66519610 on Build GRCh38
rs775900681 Chr.11: 66519661-66519661 on Build GRCh38
rs369222800 Chr.11: 66519722-66519722 on Build GRCh38
rs530002073 Chr.11: 66519558-66519558 on Build GRCh38
rs763382031 Chr.11: 66519662-66519662 on Build GRCh38
rs776079452 Chr.11: 66519761-66519761 on Build GRCh38
rs1003403379 Chr.11: 66519573-66519573 on Build GRCh38
rs757918171 Chr.11: 66519598-66519598 on Build GRCh38
rs759242162 Chr.11: 66519779-66519779 on Build GRCh38
rs987697319 Chr.11: 66519759-66519759 on Build GRCh38
rs757372800 Chr.11: 66519581-66519581 on Build GRCh38
rs560882738 Chr.11: 66519652-66519652 on Build GRCh38
rs765548860 Chr.11: 66519568-66519568 on Build GRCh38
rs777493463 Chr.11: 66519603-66519603 on Build GRCh38
rs995333198 Chr.11: 66519802-66519802 on Build GRCh38
rs757553071 Chr.11: 66519775-66519775 on Build GRCh38
rs778845659 Chr.11: 66519785-66519785 on Build GRCh38
rs766373002 Chr.11: 66519588-66519588 on Build GRCh38
rs756737897 Chr.11: 66519731-66519731 on Build GRCh38
rs749568186 Chr.11: 66519762-66519762 on Build GRCh38
rs769564460 Chr.11: 66519692-66519692 on Build GRCh38
rs780738304 Chr.11: 66519743-66519743 on Build GRCh38
rs770220426 Chr.11: 66519755-66519755 on Build GRCh38
rs572209397 Chr.11: 66519625-66519625 on Build GRCh38
rs372506294 Chr.11: 66519754-66519754 on Build GRCh38
rs754794374 Chr.11: 66519596-66519596 on Build GRCh38
rs910805911 Chr.11: 66519805-66519805 on Build GRCh38
rs773355033 Chr.11: 66519778-66519778 on Build GRCh38
rs761760689 Chr.11: 66519689-66519689 on Build GRCh38
rs774658268 Chr.11: 66519688-66519688 on Build GRCh38
rs767750294 Chr.11: 66519693-66519693 on Build GRCh38

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