Product Details

Primer Sequences
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Primer Chromosome Location
Chr.15: 72709391-72709973 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
BBS4
Entrez Gene ID
585
Gene Name
Bardet-Biedl syndrome 4
Gene Aliases
-
UniGene
Hs.208681
Gene Chromosome Location
Chr.15: 72686179-72738476 on Build GRCh38
Transcripts
NM_001252678.1 NM_001320665.1 NM_033028.4 NR_045565.1 NR_045566.1 XM_011521848.1 XM_011521849.1 XM_011521851.1 XM_017022450.1 XM_017022451.1 XM_017022452.1 XM_017022453.1 XM_017022454.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
4512053 c.112C>T p.P38S Chr.15: 72709711-72709711 on Build GRCh38
6610153 c.101C>T p.A34V Chr.15: 72709700-72709700 on Build GRCh38
1158740 c.93T>C p.I31I Chr.15: 72709716-72709716 on Build GRCh38
6610152 c.77C>T p.A26V Chr.15: 72709700-72709700 on Build GRCh38
1937491 c.92T>A p.I31N Chr.15: 72709715-72709715 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs530151644 Chr.15: 72709930-72709930 on Build GRCh38
rs370049399 Chr.15: 72709733-72709733 on Build GRCh38
rs773230417 Chr.15: 72709710-72709710 on Build GRCh38
rs1050164962 Chr.15: 72709757-72709757 on Build GRCh38
rs141156155 Chr.15: 72709721-72709721 on Build GRCh38
rs969845246 Chr.15: 72709878-72709878 on Build GRCh38
rs772122336 Chr.15: 72709707-72709707 on Build GRCh38
rs1000813501 Chr.15: 72709437-72709437 on Build GRCh38
rs927016220 Chr.15: 72709759-72709759 on Build GRCh38
rs763439713 Chr.15: 72709746-72709746 on Build GRCh38
rs758652175 Chr.15: 72709427-72709428 on Build GRCh38
rs749530632 Chr.15: 72709788-72709788 on Build GRCh38
rs963013691 Chr.15: 72709945-72709945 on Build GRCh38
rs960899994 Chr.15: 72709606-72709606 on Build GRCh38
rs137871545 Chr.15: 72709933-72709933 on Build GRCh38
rs749642509 Chr.15: 72709871-72709871 on Build GRCh38
rs1035142654 Chr.15: 72709891-72709891 on Build GRCh38
rs746095964 Chr.15: 72709817-72709817 on Build GRCh38
rs865916582 Chr.15: 72709920-72709920 on Build GRCh38
rs781511878 Chr.15: 72709815-72709815 on Build GRCh38
rs765308634 Chr.15: 72709662-72709662 on Build GRCh38
rs983376221 Chr.15: 72709560-72709560 on Build GRCh38
rs753512818 Chr.15: 72709767-72709767 on Build GRCh38
rs543735669 Chr.15: 72709676-72709676 on Build GRCh38
rs770165984 Chr.15: 72709659-72709661 on Build GRCh38
rs8033604 Chr.15: 72709694-72709694 on Build GRCh38
rs771325848 Chr.15: 72709717-72709717 on Build GRCh38
rs765714902 Chr.15: 72709734-72709734 on Build GRCh38
rs1000337872 Chr.15: 72709934-72709934 on Build GRCh38
rs960846770 Chr.15: 72709918-72709918 on Build GRCh38
rs75295839 Chr.15: 72709760-72709760 on Build GRCh38
rs928126481 Chr.15: 72709583-72709583 on Build GRCh38
rs1008706809 Chr.15: 72709775-72709775 on Build GRCh38
rs754709708 Chr.15: 72709776-72709776 on Build GRCh38
rs1002281704 Chr.15: 72709879-72709879 on Build GRCh38
rs113994189 Chr.15: 72709480-72709480 on Build GRCh38
rs748048479 Chr.15: 72709703-72709703 on Build GRCh38
rs951484487 Chr.15: 72709559-72709559 on Build GRCh38
rs536319265 Chr.15: 72709518-72709518 on Build GRCh38
rs576134518 Chr.15: 72709588-72709588 on Build GRCh38
rs1018333271 Chr.15: 72709510-72709510 on Build GRCh38
rs749951346 Chr.15: 72709753-72709753 on Build GRCh38
rs776003520 Chr.15: 72709740-72709740 on Build GRCh38
rs976723349 Chr.15: 72709534-72709534 on Build GRCh38
rs577233772 Chr.15: 72709558-72709562 on Build GRCh38
rs771001840 Chr.15: 72709805-72709805 on Build GRCh38
rs751448309 Chr.15: 72709646-72709646 on Build GRCh38
rs964134929 Chr.15: 72709528-72709528 on Build GRCh38
rs113994182 Chr.15: 72709714-72709714 on Build GRCh38
rs760345612 Chr.15: 72709756-72709756 on Build GRCh38
rs941834022 Chr.15: 72709660-72709660 on Build GRCh38
rs759842432 Chr.15: 72709822-72709824 on Build GRCh38
rs907822186 Chr.15: 72709570-72709570 on Build GRCh38
rs771162339 Chr.15: 72709811-72709811 on Build GRCh38
rs749122019 Chr.15: 72709652-72709652 on Build GRCh38
rs770283332 Chr.15: 72709819-72709819 on Build GRCh38
rs759937044 Chr.15: 72709722-72709722 on Build GRCh38
rs1029687457 Chr.15: 72709539-72709539 on Build GRCh38
rs112339482 Chr.15: 72709542-72709543 on Build GRCh38
rs747095992 Chr.15: 72709804-72709804 on Build GRCh38
rs778683535 Chr.15: 72709783-72709783 on Build GRCh38
rs376500884 Chr.15: 72709793-72709793 on Build GRCh38
rs554825148 Chr.15: 72709561-72709561 on Build GRCh38
rs796910342 Chr.15: 72709540-72709541 on Build GRCh38
rs559285661 Chr.15: 72709795-72709795 on Build GRCh38
rs1056830979 Chr.15: 72709784-72709784 on Build GRCh38
rs369551927 Chr.15: 72709782-72709782 on Build GRCh38
rs767043854 Chr.15: 72709748-72709748 on Build GRCh38
rs752673951 Chr.15: 72709786-72709786 on Build GRCh38

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