Product Details

Primer Sequences
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Primer Chromosome Location
Chr.19: 46755807-46756054 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
FKRP
Entrez Gene ID
79147
Gene Name
fukutin related protein
Gene Aliases
LGMD2I, MDC1C, MDDGA5, MDDGB5, MDDGC5
UniGene
Hs.515493
Gene Chromosome Location
Chr.19: 46746015-46758575 on Build GRCh38
Transcripts
NM_001039885.2 NM_024301.4 XM_005259247.2 XM_005259248.2 XM_005259249.4 XM_011527306.1 XM_011527307.1 XM_017027297.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
4960555 c.363G>A p.V121V Chr.19: 46755813-46755813 on Build GRCh38
5648921 c.399G>A p.A133A Chr.19: 46755849-46755849 on Build GRCh38
4754427 c.491A>T p.N164I Chr.19: 46755941-46755941 on Build GRCh38
6230469 c.542G>A p.R181H Chr.19: 46755992-46755992 on Build GRCh38
5081444 c.477G>A p.P159P Chr.19: 46755927-46755927 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs727502842 Chr.19: 46755919-46755919 on Build GRCh38
rs797045576 Chr.19: 46755933-46755933 on Build GRCh38
rs727502843 Chr.19: 46755979-46755979 on Build GRCh38
rs554813030 Chr.19: 46755953-46755953 on Build GRCh38
rs763156437 Chr.19: 46756023-46756023 on Build GRCh38
rs768007208 Chr.19: 46755981-46755981 on Build GRCh38
rs886042579 Chr.19: 46755851-46755851 on Build GRCh38
rs755588907 Chr.19: 46755845-46755845 on Build GRCh38
rs199714523 Chr.19: 46755906-46755906 on Build GRCh38
rs994701905 Chr.19: 46755925-46755925 on Build GRCh38
rs990897881 Chr.19: 46755960-46755960 on Build GRCh38
rs765402738 Chr.19: 46755916-46755916 on Build GRCh38
rs745681948 Chr.19: 46755884-46755884 on Build GRCh38
rs148206382 Chr.19: 46755877-46755877 on Build GRCh38
rs771997716 Chr.19: 46755899-46755899 on Build GRCh38
rs747642602 Chr.19: 46755835-46755835 on Build GRCh38
rs963527713 Chr.19: 46756003-46756003 on Build GRCh38
rs778558741 Chr.19: 46756006-46756006 on Build GRCh38
rs104894690 Chr.19: 46755850-46755850 on Build GRCh38
rs543163491 Chr.19: 46755995-46755995 on Build GRCh38
rs797045575 Chr.19: 46755876-46755876 on Build GRCh38
rs748928675 Chr.19: 46755853-46755853 on Build GRCh38
rs763245394 Chr.19: 46755948-46755948 on Build GRCh38
rs963599756 Chr.19: 46755924-46755924 on Build GRCh38
rs753390261 Chr.19: 46755994-46755994 on Build GRCh38
rs201454433 Chr.19: 46756017-46756017 on Build GRCh38
rs398124393 Chr.19: 46756031-46756031 on Build GRCh38
rs773481816 Chr.19: 46755936-46755936 on Build GRCh38
rs755316345 Chr.19: 46755977-46755977 on Build GRCh38
rs970724879 Chr.19: 46755966-46755966 on Build GRCh38
rs886042355 Chr.19: 46755824-46755824 on Build GRCh38
rs959475250 Chr.19: 46755943-46755943 on Build GRCh38
rs917645867 Chr.19: 46756019-46756019 on Build GRCh38
rs866352535 Chr.19: 46755937-46755937 on Build GRCh38
rs759875552 Chr.19: 46756036-46756036 on Build GRCh38
rs746905689 Chr.19: 46756012-46756012 on Build GRCh38
rs745619101 Chr.19: 46756007-46756007 on Build GRCh38
rs1008630400 Chr.19: 46755941-46755941 on Build GRCh38
rs587777823 Chr.19: 46755840-46755841 on Build GRCh38
rs200990647 Chr.19: 46755970-46755970 on Build GRCh38
rs756705086 Chr.19: 46755987-46755987 on Build GRCh38
rs886041004 Chr.19: 46755852-46755853 on Build GRCh38
rs771223960 Chr.19: 46756032-46756032 on Build GRCh38
rs753147414 Chr.19: 46755983-46755983 on Build GRCh38
rs398124392 Chr.19: 46755854-46755854 on Build GRCh38
rs1025024341 Chr.19: 46755963-46755963 on Build GRCh38
rs900304726 Chr.19: 46755844-46755844 on Build GRCh38
rs766747690 Chr.19: 46755961-46755961 on Build GRCh38
rs771770302 Chr.19: 46756011-46756011 on Build GRCh38
rs768762059 Chr.19: 46756013-46756013 on Build GRCh38
rs75079578 Chr.19: 46756035-46756035 on Build GRCh38
rs1032563159 Chr.19: 46756004-46756004 on Build GRCh38
rs777245868 Chr.19: 46755991-46755991 on Build GRCh38

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