Product Details

Primer Sequences
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Primer Chromosome Location
Chr.2: 169493568-169494048 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
6229459 c.586A>C p.S196R Chr.2: 169493804-169493804 on Build GRCh38
5107342 c.584A>G p.D195G Chr.2: 169493802-169493802 on Build GRCh38
5675275 c.531A>G p.L177L Chr.2: 169493749-169493749 on Build GRCh38
4694101 c.538delT p.F181fs*5 Chr.2: 169493756-169493756 on Build GRCh38
391778 c.577_578insT p.M193fs*3 Chr.2: 169493795-169493796 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs895583962 Chr.2: 169493651-169493651 on Build GRCh38
rs146685307 Chr.2: 169493990-169493990 on Build GRCh38
rs769432950 Chr.2: 169493706-169493706 on Build GRCh38
rs770317858 Chr.2: 169493959-169493959 on Build GRCh38
rs548717471 Chr.2: 169493608-169493608 on Build GRCh38
rs746431180 Chr.2: 169493704-169493706 on Build GRCh38
rs201051397 Chr.2: 169493723-169493723 on Build GRCh38
rs121908582 Chr.2: 169493765-169493765 on Build GRCh38
rs932472246 Chr.2: 169493950-169493950 on Build GRCh38
rs758508869 Chr.2: 169493760-169493760 on Build GRCh38
rs1015232858 Chr.2: 169493637-169493637 on Build GRCh38
rs771189736 Chr.2: 169494005-169494005 on Build GRCh38
rs755324592 Chr.2: 169493629-169493629 on Build GRCh38
rs755408078 Chr.2: 169493787-169493787 on Build GRCh38
rs935775385 Chr.2: 169493685-169493688 on Build GRCh38
rs976791276 Chr.2: 169493876-169493876 on Build GRCh38
rs532756977 Chr.2: 169494019-169494019 on Build GRCh38
rs774298713 Chr.2: 169493716-169493716 on Build GRCh38
rs772811556 Chr.2: 169493817-169493817 on Build GRCh38
rs759155760 Chr.2: 169493846-169493846 on Build GRCh38
rs756035013 Chr.2: 169493730-169493730 on Build GRCh38
rs541661563 Chr.2: 169493922-169493922 on Build GRCh38
rs750622198 Chr.2: 169493887-169493887 on Build GRCh38
rs988114527 Chr.2: 169493815-169493815 on Build GRCh38
rs531816549 Chr.2: 169493977-169493977 on Build GRCh38
rs191367884 Chr.2: 169493955-169493955 on Build GRCh38
rs979870925 Chr.2: 169493595-169493595 on Build GRCh38
rs786205636 Chr.2: 169493750-169493750 on Build GRCh38
rs747428422 Chr.2: 169493889-169493889 on Build GRCh38
rs759371500 Chr.2: 169493719-169493719 on Build GRCh38
rs781548989 Chr.2: 169493737-169493737 on Build GRCh38
rs372929411 Chr.2: 169493864-169493864 on Build GRCh38
rs770667323 Chr.2: 169493828-169493828 on Build GRCh38
rs747158832 Chr.2: 169493781-169493781 on Build GRCh38
rs771894963 Chr.2: 169493848-169493848 on Build GRCh38
rs748550637 Chr.2: 169493692-169493692 on Build GRCh38
rs137853921 Chr.2: 169493769-169493769 on Build GRCh38
rs778388955 Chr.2: 169493698-169493699 on Build GRCh38
rs369075832 Chr.2: 169493811-169493811 on Build GRCh38
rs755404303 Chr.2: 169493966-169493966 on Build GRCh38
rs948559049 Chr.2: 169493590-169493590 on Build GRCh38
rs866793029 Chr.2: 169493687-169493687 on Build GRCh38
rs921140236 Chr.2: 169493894-169493894 on Build GRCh38
rs780432102 Chr.2: 169493873-169493873 on Build GRCh38
rs764007119 Chr.2: 169493871-169493871 on Build GRCh38
rs1013990999 Chr.2: 169493677-169493677 on Build GRCh38
rs750675292 Chr.2: 169493742-169493742 on Build GRCh38
rs752432428 Chr.2: 169493724-169493724 on Build GRCh38
rs568670382 Chr.2: 169493609-169493609 on Build GRCh38
rs758879759 Chr.2: 169493861-169493861 on Build GRCh38
rs748963554 Chr.2: 169493821-169493821 on Build GRCh38
rs781755708 Chr.2: 169493799-169493799 on Build GRCh38
rs563774823 Chr.2: 169494003-169494003 on Build GRCh38
rs772907390 Chr.2: 169493708-169493708 on Build GRCh38
rs74403530 Chr.2: 169493975-169493975 on Build GRCh38
rs773705342 Chr.2: 169493836-169493836 on Build GRCh38
rs917152338 Chr.2: 169493589-169493589 on Build GRCh38
rs573038203 Chr.2: 169493915-169493915 on Build GRCh38
rs543208217 Chr.2: 169493882-169493883 on Build GRCh38
rs775585626 Chr.2: 169493855-169493855 on Build GRCh38
rs143191074 Chr.2: 169493802-169493802 on Build GRCh38
rs553179058 Chr.2: 169493903-169493903 on Build GRCh38

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