Product Details

Primer Sequences

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Primer Chromosome Location

Chr.1: 245081892-245082165 on Build GRCh38 View in UCSC browser

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 XM_017002545.1

Cosmic Detail

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Cosmic ID	Mutation	AA	Transcript Location
5380316	c.637C>T	p.L213F	Chr.1: 245082128-245082128 on Build GRCh38
7365878	c.233C>T	p.P78L	Chr.1: 245082132-245082132 on Build GRCh38
2051556	c.220G>A	p.E74K	Chr.1: 245082119-245082119 on Build GRCh38
7136218	c.215G>T	p.R72L	Chr.1: 245082114-245082114 on Build GRCh38
1748277	c.256G>C	p.E86Q	Chr.1: 245082155-245082155 on Build GRCh38
6542154	c.219C>T	p.F73F	Chr.1: 245082118-245082118 on Build GRCh38
146845	c.184-7T>C	p.?	Chr.1: 245082076-245082076 on Build GRCh38
4647616	c.643G>A	p.V215M	Chr.1: 245082134-245082134 on Build GRCh38
4680284	c.670_671+2delAAGT	p.?	Chr.1: 245082161-245082164 on Build GRCh38
146846	c.201C>T	p.P67P	Chr.1: 245082100-245082100 on Build GRCh38
1204958	c.225A>C	p.K75N	Chr.1: 245082124-245082124 on Build GRCh38
5910171	c.232C>T	p.P78S	Chr.1: 245082131-245082131 on Build GRCh38
4516534	c.607_608CC>TT	p.P203F	Chr.1: 245082098-245082099 on Build GRCh38
5380315	c.229C>T	p.L77F	Chr.1: 245082128-245082128 on Build GRCh38
7365879	c.641C>T	p.P214L	Chr.1: 245082132-245082132 on Build GRCh38
4647615	c.235G>A	p.V79M	Chr.1: 245082134-245082134 on Build GRCh38
4680283	c.262_263+2delAAGT	p.?	Chr.1: 245082161-245082164 on Build GRCh38
7215030	c.592-7T>C	p.?	Chr.1: 245082076-245082076 on Build GRCh38
4030374	c.671+2T>A	p.?	Chr.1: 245082164-245082164 on Build GRCh38
3785212	c.622C>T	p.R208*	Chr.1: 245082113-245082113 on Build GRCh38
6542155	c.627C>T	p.F209F	Chr.1: 245082118-245082118 on Build GRCh38
4516533	c.199_200CC>TT	p.P67F	Chr.1: 245082098-245082099 on Build GRCh38
7136219	c.623G>T	p.R208L	Chr.1: 245082114-245082114 on Build GRCh38
4030373	c.263+2T>A	p.?	Chr.1: 245082164-245082164 on Build GRCh38
3751069	c.609C>T	p.P203P	Chr.1: 245082100-245082100 on Build GRCh38
3785211	c.214C>T	p.R72*	Chr.1: 245082113-245082113 on Build GRCh38
2051557	c.628G>A	p.E210K	Chr.1: 245082119-245082119 on Build GRCh38
5910172	c.640C>T	p.P214S	Chr.1: 245082131-245082131 on Build GRCh38
310812	c.211A>G	p.I71V	Chr.1: 245082110-245082110 on Build GRCh38
5661199	c.619A>G	p.I207V	Chr.1: 245082110-245082110 on Build GRCh38
1748278	c.664G>C	p.E222Q	Chr.1: 245082155-245082155 on Build GRCh38

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SNP Detail

SNP ID	Chromosome Location
rs966401988	Chr.1: 245082010-245082010 on Build GRCh38
rs773087834	Chr.1: 245082114-245082114 on Build GRCh38
rs779387683	Chr.1: 245082038-245082038 on Build GRCh38
rs767268130	Chr.1: 245082133-245082133 on Build GRCh38
rs761571533	Chr.1: 245082106-245082106 on Build GRCh38
rs750388985	Chr.1: 245082131-245082131 on Build GRCh38
rs544391259	Chr.1: 245081968-245081968 on Build GRCh38
rs557402578	Chr.1: 245082119-245082119 on Build GRCh38
rs974542518	Chr.1: 245082077-245082077 on Build GRCh38
rs780056053	Chr.1: 245082049-245082049 on Build GRCh38
rs529930682	Chr.1: 245082054-245082054 on Build GRCh38
rs142888002	Chr.1: 245082118-245082118 on Build GRCh38
rs749801218	Chr.1: 245082072-245082072 on Build GRCh38
rs561075630	Chr.1: 245082021-245082021 on Build GRCh38
rs757892084	Chr.1: 245082032-245082032 on Build GRCh38
rs778324389	Chr.1: 245082071-245082071 on Build GRCh38
rs764978665	Chr.1: 245082113-245082113 on Build GRCh38
rs1054899950	Chr.1: 245081939-245081939 on Build GRCh38
rs1002289011	Chr.1: 245081919-245081919 on Build GRCh38
rs1008825530	Chr.1: 245082033-245082033 on Build GRCh38
rs893519997	Chr.1: 245081967-245081967 on Build GRCh38
rs751417929	Chr.1: 245082089-245082091 on Build GRCh38
rs759617162	Chr.1: 245082084-245082084 on Build GRCh38
rs984218808	Chr.1: 245082109-245082109 on Build GRCh38
rs7551261	Chr.1: 245082132-245082132 on Build GRCh38
rs908570524	Chr.1: 245082111-245082111 on Build GRCh38
rs751133616	Chr.1: 245082051-245082051 on Build GRCh38
rs769745280	Chr.1: 245082128-245082128 on Build GRCh38
rs751582223	Chr.1: 245081926-245081926 on Build GRCh38
rs375113841	Chr.1: 245082092-245082092 on Build GRCh38
rs748522930	Chr.1: 245082062-245082062 on Build GRCh38
rs10927387	Chr.1: 245082100-245082100 on Build GRCh38
rs575612193	Chr.1: 245081945-245081945 on Build GRCh38
rs1021065924	Chr.1: 245081981-245081981 on Build GRCh38
rs10927386	Chr.1: 245082076-245082076 on Build GRCh38

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