Product Details

Primer Sequences
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Primer Chromosome Location
Chr.1: 245083403-245083672 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
2051563 c.357G>A p.K119K Chr.1: 245083672-245083672 on Build GRCh38
7316344 c.762C>T p.I254I Chr.1: 245083669-245083669 on Build GRCh38
4577105 c.346G>A p.E116K Chr.1: 245083661-245083661 on Build GRCh38
2051561 c.325C>T p.R109C Chr.1: 245083640-245083640 on Build GRCh38
7316343 c.354C>T p.I118I Chr.1: 245083669-245083669 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs202024615 Chr.1: 245083605-245083605 on Build GRCh38
rs1020583280 Chr.1: 245083447-245083447 on Build GRCh38
rs546842956 Chr.1: 245083439-245083439 on Build GRCh38
rs149676779 Chr.1: 245083473-245083473 on Build GRCh38
rs770810575 Chr.1: 245083500-245083500 on Build GRCh38
rs753576183 Chr.1: 245083585-245083585 on Build GRCh38
rs955002262 Chr.1: 245083548-245083548 on Build GRCh38
rs765544922 Chr.1: 245083592-245083592 on Build GRCh38
rs552295066 Chr.1: 245083542-245083542 on Build GRCh38
rs11541381 Chr.1: 245083470-245083470 on Build GRCh38
rs747121942 Chr.1: 245083466-245083466 on Build GRCh38
rs940328976 Chr.1: 245083450-245083450 on Build GRCh38
rs527797639 Chr.1: 245083597-245083597 on Build GRCh38
rs762050759 Chr.1: 245083588-245083588 on Build GRCh38
rs750806554 Chr.1: 245083595-245083595 on Build GRCh38
rs1000433235 Chr.1: 245083514-245083514 on Build GRCh38
rs758932615 Chr.1: 245083448-245083448 on Build GRCh38
rs963749578 Chr.1: 245083541-245083544 on Build GRCh38
rs975100758 Chr.1: 245083541-245083541 on Build GRCh38
rs1032867877 Chr.1: 245083540-245083540 on Build GRCh38
rs760237391 Chr.1: 245083509-245083509 on Build GRCh38
rs1029384505 Chr.1: 245083547-245083547 on Build GRCh38
rs368983163 Chr.1: 245083635-245083635 on Build GRCh38
rs780057193 Chr.1: 245083449-245083449 on Build GRCh38
rs780540073 Chr.1: 245083603-245083603 on Build GRCh38
rs1036241957 Chr.1: 245083528-245083528 on Build GRCh38
rs928524825 Chr.1: 245083565-245083565 on Build GRCh38
rs781253010 Chr.1: 245083627-245083627 on Build GRCh38
rs774403512 Chr.1: 245083501-245083501 on Build GRCh38
rs372474589 Chr.1: 245083513-245083513 on Build GRCh38
rs532779256 Chr.1: 245083533-245083533 on Build GRCh38
rs569014161 Chr.1: 245083634-245083634 on Build GRCh38
rs775082442 Chr.1: 245083507-245083507 on Build GRCh38
rs200585506 Chr.1: 245083620-245083620 on Build GRCh38
rs145465501 Chr.1: 245083474-245083474 on Build GRCh38
rs759507659 Chr.1: 245083502-245083502 on Build GRCh38
rs938586448 Chr.1: 245083573-245083573 on Build GRCh38
rs755147570 Chr.1: 245083616-245083616 on Build GRCh38
rs772159938 Chr.1: 245083503-245083503 on Build GRCh38

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