Product Details

Primer Sequences
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Primer Chromosome Location
Chr.2: 169499435-169499702 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
BBS5
Entrez Gene ID
129880
Gene Name
Bardet-Biedl syndrome 5
Gene Aliases
-
UniGene
Hs.233398
Gene Chromosome Location
Chr.2: 169479496-169506655 on Build GRCh38
Transcripts
NM_152384.2

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
6154819 c.766G>C p.V256L Chr.2: 169499570-169499570 on Build GRCh38
1660743 c.770A>G p.Y257C Chr.2: 169499574-169499574 on Build GRCh38
5120318 c.751_817-1340del2201 p.? Chr.2: 169499555-169501755 on Build GRCh38
6882749 c.712G>A p.D238N Chr.2: 169499516-169499516 on Build GRCh38
3315172 c.755C>T p.S252L Chr.2: 169499559-169499559 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs150178711 Chr.2: 169499497-169499497 on Build GRCh38
rs764529801 Chr.2: 169499529-169499529 on Build GRCh38
rs760369493 Chr.2: 169499598-169499598 on Build GRCh38
rs765700015 Chr.2: 169499646-169499646 on Build GRCh38
rs747839353 Chr.2: 169499470-169499470 on Build GRCh38
rs767768295 Chr.2: 169499483-169499483 on Build GRCh38
rs561317179 Chr.2: 169499604-169499604 on Build GRCh38
rs746503361 Chr.2: 169499566-169499566 on Build GRCh38
rs769669565 Chr.2: 169499590-169499590 on Build GRCh38
rs781207765 Chr.2: 169499579-169499579 on Build GRCh38
rs776950058 Chr.2: 169499635-169499635 on Build GRCh38
rs774387817 Chr.2: 169499479-169499479 on Build GRCh38
rs761357831 Chr.2: 169499644-169499645 on Build GRCh38
rs780731742 Chr.2: 169499672-169499672 on Build GRCh38
rs143113298 Chr.2: 169499555-169499555 on Build GRCh38
rs753592567 Chr.2: 169499554-169499555 on Build GRCh38
rs779916920 Chr.2: 169499556-169499556 on Build GRCh38
rs764194396 Chr.2: 169499632-169499632 on Build GRCh38
rs376537695 Chr.2: 169499574-169499574 on Build GRCh38
rs187294562 Chr.2: 169499461-169499461 on Build GRCh38
rs759783371 Chr.2: 169499480-169499480 on Build GRCh38
rs17854325 Chr.2: 169499533-169499533 on Build GRCh38
rs772270860 Chr.2: 169499606-169499606 on Build GRCh38
rs758889277 Chr.2: 169499651-169499651 on Build GRCh38
rs760543631 Chr.2: 169499465-169499467 on Build GRCh38
rs746554870 Chr.2: 169499463-169499463 on Build GRCh38
rs749106175 Chr.2: 169499603-169499603 on Build GRCh38
rs969475017 Chr.2: 169499592-169499592 on Build GRCh38
rs1030370309 Chr.2: 169499674-169499674 on Build GRCh38
rs992585596 Chr.2: 169499561-169499561 on Build GRCh38
rs142007921 Chr.2: 169499570-169499570 on Build GRCh38
rs765652274 Chr.2: 169499544-169499544 on Build GRCh38
rs769635983 Chr.2: 169499477-169499477 on Build GRCh38
rs370703812 Chr.2: 169499589-169499589 on Build GRCh38
rs754497978 Chr.2: 169499670-169499670 on Build GRCh38
rs569954589 Chr.2: 169499677-169499677 on Build GRCh38
rs773030426 Chr.2: 169499596-169499596 on Build GRCh38
rs763727054 Chr.2: 169499470-169499471 on Build GRCh38
rs766071096 Chr.2: 169499665-169499665 on Build GRCh38
rs751260520 Chr.2: 169499667-169499667 on Build GRCh38
rs199846010 Chr.2: 169499612-169499612 on Build GRCh38
rs201563783 Chr.2: 169499467-169499467 on Build GRCh38
rs760804890 Chr.2: 169499522-169499522 on Build GRCh38
rs201741047 Chr.2: 169499647-169499647 on Build GRCh38
rs768708908 Chr.2: 169499466-169499466 on Build GRCh38
rs763705177 Chr.2: 169499618-169499618 on Build GRCh38
rs373877063 Chr.2: 169499540-169499540 on Build GRCh38
rs561658017 Chr.2: 169499542-169499542 on Build GRCh38
rs76138485 Chr.2: 169499554-169499554 on Build GRCh38

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