Product Details

Primer Sequences
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Primer Chromosome Location
Chr.1: 245087259-245087806 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
EFCAB2
Entrez Gene ID
84288
Gene Name
EF-hand calcium binding domain 2
Gene Aliases
CFAP200, DRC8
UniGene
Hs.134857
Gene Chromosome Location
Chr.1: 244969739-245125228 on Build GRCh38
Transcripts
NM_001143943.1 NM_001290327.1 NM_032328.3 NR_026587.1 XM_011544300.2 XM_011544301.1 XM_011544302.2 XM_017002538.1 XM_017002539.1 XM_017002540.1 XM_017002541.1 XM_017002542.1 XM_017002543.1 XM_017002544.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
2051567 c.435A>T p.S145S Chr.1: 245087306-245087306 on Build GRCh38
4491921 c.388C>G p.Q130E Chr.1: 245087259-245087259 on Build GRCh38
1690068 c.475A>T p.I159L Chr.1: 245087346-245087346 on Build GRCh38
5794180 c.391G>A p.E131K Chr.1: 245087262-245087262 on Build GRCh38
239674 c.460A>T p.I154L Chr.1: 245087331-245087331 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs1054510232 Chr.1: 245087596-245087596 on Build GRCh38
rs948143907 Chr.1: 245087366-245087366 on Build GRCh38
rs138178645 Chr.1: 245087600-245087600 on Build GRCh38
rs946101624 Chr.1: 245087776-245087776 on Build GRCh38
rs868023756 Chr.1: 245087335-245087335 on Build GRCh38
rs771779638 Chr.1: 245087322-245087322 on Build GRCh38
rs946007001 Chr.1: 245087601-245087601 on Build GRCh38
rs529836885 Chr.1: 245087428-245087428 on Build GRCh38
rs951649112 Chr.1: 245087643-245087643 on Build GRCh38
rs926456927 Chr.1: 245087735-245087735 on Build GRCh38
rs181004324 Chr.1: 245087687-245087687 on Build GRCh38
rs1018432572 Chr.1: 245087341-245087341 on Build GRCh38
rs899992980 Chr.1: 245087647-245087647 on Build GRCh38
rs971090467 Chr.1: 245087726-245087726 on Build GRCh38
rs765480039 Chr.1: 245087351-245087351 on Build GRCh38
rs990251692 Chr.1: 245087741-245087741 on Build GRCh38
rs770552623 Chr.1: 245087302-245087302 on Build GRCh38
rs1008784221 Chr.1: 245087332-245087332 on Build GRCh38
rs540775548 Chr.1: 245087305-245087305 on Build GRCh38
rs867193512 Chr.1: 245087688-245087688 on Build GRCh38
rs914631299 Chr.1: 245087755-245087755 on Build GRCh38
rs770143954 Chr.1: 245087583-245087583 on Build GRCh38
rs761862744 Chr.1: 245087349-245087349 on Build GRCh38
rs892409097 Chr.1: 245087456-245087456 on Build GRCh38
rs977007702 Chr.1: 245087290-245087290 on Build GRCh38
rs559578053 Chr.1: 245087457-245087457 on Build GRCh38
rs891401849 Chr.1: 245087623-245087623 on Build GRCh38
rs1024623523 Chr.1: 245087725-245087725 on Build GRCh38
rs1008462795 Chr.1: 245087640-245087640 on Build GRCh38
rs140441970 Chr.1: 245087311-245087311 on Build GRCh38
rs750658352 Chr.1: 245087363-245087363 on Build GRCh38
rs533485837 Chr.1: 245087541-245087541 on Build GRCh38
rs767179273 Chr.1: 245087412-245087412 on Build GRCh38
rs746693021 Chr.1: 245087556-245087556 on Build GRCh38
rs75482772 Chr.1: 245087740-245087740 on Build GRCh38
rs1047707 Chr.1: 245087718-245087718 on Build GRCh38
rs542617810 Chr.1: 245087734-245087734 on Build GRCh38
rs939369778 Chr.1: 245087422-245087422 on Build GRCh38
rs777219186 Chr.1: 245087292-245087292 on Build GRCh38
rs371227790 Chr.1: 245087326-245087326 on Build GRCh38
rs374210387 Chr.1: 245087479-245087479 on Build GRCh38
rs891313324 Chr.1: 245087320-245087320 on Build GRCh38
rs746230413 Chr.1: 245087314-245087314 on Build GRCh38
rs376180721 Chr.1: 245087538-245087538 on Build GRCh38
rs189265932 Chr.1: 245087646-245087646 on Build GRCh38
rs761215181 Chr.1: 245087329-245087329 on Build GRCh38
rs964160103 Chr.1: 245087343-245087343 on Build GRCh38
rs185666051 Chr.1: 245087509-245087509 on Build GRCh38
rs973792861 Chr.1: 245087361-245087361 on Build GRCh38
rs776782333 Chr.1: 245087347-245087347 on Build GRCh38
rs1010690631 Chr.1: 245087472-245087472 on Build GRCh38
rs534840132 Chr.1: 245087531-245087531 on Build GRCh38
rs1025887483 Chr.1: 245087636-245087636 on Build GRCh38
rs376666673 Chr.1: 245087293-245087293 on Build GRCh38
rs982679092 Chr.1: 245087497-245087497 on Build GRCh38
rs759348376 Chr.1: 245087406-245087406 on Build GRCh38
rs769297896 Chr.1: 245087344-245087344 on Build GRCh38
rs375675536 Chr.1: 245087761-245087763 on Build GRCh38
rs984322470 Chr.1: 245087331-245087331 on Build GRCh38
rs1003860467 Chr.1: 245087719-245087719 on Build GRCh38
rs773478289 Chr.1: 245087655-245087655 on Build GRCh38
rs927960835 Chr.1: 245087413-245087413 on Build GRCh38
rs951019296 Chr.1: 245087492-245087492 on Build GRCh38
rs549400543 Chr.1: 245087508-245087508 on Build GRCh38
rs1026655327 Chr.1: 245087678-245087678 on Build GRCh38
rs193059914 Chr.1: 245087427-245087427 on Build GRCh38
rs1042005720 Chr.1: 245087613-245087613 on Build GRCh38

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