Product Details

Primer Sequences
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Primer Chromosome Location
Chr.15: 72722694-72723224 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
5458522 c.430-4C>A p.? Chr.15: 72722790-72722790 on Build GRCh38
1129123 c.437T>A p.I146K Chr.15: 72722825-72722825 on Build GRCh38
5828275 c.458A>G p.Y153C Chr.15: 72722822-72722822 on Build GRCh38
1374418 c.434A>G p.Y145C Chr.15: 72722822-72722822 on Build GRCh38
5458521 c.406-4C>A p.? Chr.15: 72722790-72722790 on Build GRCh38

SNP Detail

SNP ID Chromosome Location
rs765311209 Chr.15: 72722786-72722786 on Build GRCh38
rs764423333 Chr.15: 72722822-72722822 on Build GRCh38
rs778635606 Chr.15: 72722857-72722857 on Build GRCh38
rs531768819 Chr.15: 72723103-72723103 on Build GRCh38
rs557835720 Chr.15: 72722736-72722736 on Build GRCh38
rs751997837 Chr.15: 72722824-72722824 on Build GRCh38
rs1000729487 Chr.15: 72722915-72722915 on Build GRCh38
rs1034067179 Chr.15: 72722908-72722908 on Build GRCh38
rs754471648 Chr.15: 72722856-72722856 on Build GRCh38
rs777754926 Chr.15: 72722745-72722746 on Build GRCh38
rs1022554939 Chr.15: 72723171-72723171 on Build GRCh38
rs1037848340 Chr.15: 72723170-72723170 on Build GRCh38
rs200810799 Chr.15: 72722861-72722861 on Build GRCh38
rs12372963 Chr.15: 72723008-72723008 on Build GRCh38
rs1009071342 Chr.15: 72722777-72722778 on Build GRCh38
rs769886837 Chr.15: 72722825-72722825 on Build GRCh38
rs907728480 Chr.15: 72722956-72722956 on Build GRCh38
rs550041269 Chr.15: 72723172-72723172 on Build GRCh38
rs979790441 Chr.15: 72722905-72722905 on Build GRCh38
rs113994191 Chr.15: 72722792-72722792 on Build GRCh38
rs369606793 Chr.15: 72722763-72722763 on Build GRCh38
rs890593886 Chr.15: 72722738-72722738 on Build GRCh38
rs920584421 Chr.15: 72723036-72723036 on Build GRCh38
rs892674474 Chr.15: 72723148-72723148 on Build GRCh38
rs771486025 Chr.15: 72723037-72723037 on Build GRCh38
rs753454231 Chr.15: 72723093-72723093 on Build GRCh38
rs777950566 Chr.15: 72722972-72722972 on Build GRCh38
rs759608266 Chr.15: 72722768-72722768 on Build GRCh38
rs763224665 Chr.15: 72722808-72722808 on Build GRCh38
rs1031231345 Chr.15: 72722815-72722815 on Build GRCh38
rs749346939 Chr.15: 72722778-72722781 on Build GRCh38
rs376278120 Chr.15: 72723055-72723055 on Build GRCh38
rs373214822 Chr.15: 72722831-72722831 on Build GRCh38
rs758171323 Chr.15: 72722869-72722869 on Build GRCh38
rs1052587725 Chr.15: 72723128-72723128 on Build GRCh38
rs959843033 Chr.15: 72722913-72722913 on Build GRCh38
rs182626646 Chr.15: 72723073-72723073 on Build GRCh38
rs781691906 Chr.15: 72722827-72722827 on Build GRCh38
rs561120145 Chr.15: 72723045-72723045 on Build GRCh38
rs966935212 Chr.15: 72722887-72722887 on Build GRCh38
rs944802046 Chr.15: 72723115-72723115 on Build GRCh38
rs992631987 Chr.15: 72722927-72722927 on Build GRCh38
rs571630762 Chr.15: 72723203-72723203 on Build GRCh38
rs1011569514 Chr.15: 72723163-72723163 on Build GRCh38
rs908145948 Chr.15: 72723121-72723121 on Build GRCh38
rs922900682 Chr.15: 72723041-72723041 on Build GRCh38
rs111885398 Chr.15: 72722870-72722870 on Build GRCh38
rs746778011 Chr.15: 72722888-72722888 on Build GRCh38
rs201881253 Chr.15: 72722796-72722796 on Build GRCh38
rs937371682 Chr.15: 72723198-72723198 on Build GRCh38
rs770650500 Chr.15: 72722890-72722890 on Build GRCh38
rs984100785 Chr.15: 72723063-72723063 on Build GRCh38
rs964402633 Chr.15: 72723015-72723015 on Build GRCh38
rs942172776 Chr.15: 72723131-72723131 on Build GRCh38
rs113127626 Chr.15: 72722730-72722730 on Build GRCh38

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