Product Details

Primer Sequences

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Primer Chromosome Location

Chr.2: 55870803-55871304 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

EFEMP1

Entrez Gene ID

2202

Gene Name

EGF containing fibulin like extracellular matrix protein 1

Gene Aliases

DHRD, DRAD, FBLN3, FBNL, FIBL-3, MLVT, MTLV, S1-5

UniGene

Hs.732348

Gene Chromosome Location

Chr.2: 55865962-55924163 on Build GRCh38

Transcripts

NM_001039348.2 NM_001039349.2 XM_005264205.4 XM_017003586.1

Cosmic Detail

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Cosmic ID	Mutation	AA	Transcript Location
1021905	c.1136G>A	p.C379Y	Chr.2: 55870904-55870904 on Build GRCh38
3582356	c.1203A>T	p.R401R	Chr.2: 55870837-55870837 on Build GRCh38
3582355	c.1205C>T	p.S402F	Chr.2: 55870835-55870835 on Build GRCh38
4094930	c.1073G>A	p.R358H	Chr.2: 55871051-55871051 on Build GRCh38
77633	c.1033C>T	p.R345W	Chr.2: 55871091-55871091 on Build GRCh38
1408717	c.1096C>G	p.Q366E	Chr.2: 55871028-55871028 on Build GRCh38
5674373	c.1189T>C	p.Y397H	Chr.2: 55870851-55870851 on Build GRCh38
3910444	c.1060C>T	p.H354Y	Chr.2: 55871064-55871064 on Build GRCh38
3053567	c.1009G>A	p.E337K	Chr.2: 55871115-55871115 on Build GRCh38
3053566	c.1042G>A	p.E348K	Chr.2: 55871082-55871082 on Build GRCh38
5637761	c.1160G>A	p.R387Q	Chr.2: 55870880-55870880 on Build GRCh38
3053565	c.1072C>T	p.R358C	Chr.2: 55871052-55871052 on Build GRCh38
7208260	c.1167G>T	p.L389L	Chr.2: 55870873-55870873 on Build GRCh38
1204981	c.1085G>A	p.R362Q	Chr.2: 55871039-55871039 on Build GRCh38
280730	c.1124+8A>G	p.?	Chr.2: 55870992-55870992 on Build GRCh38
1172886	c.1001-1G>T	p.?	Chr.2: 55871124-55871124 on Build GRCh38
225463	c.1090C>T	p.P364S	Chr.2: 55871034-55871034 on Build GRCh38
5459677	c.1072C>A	p.R358S	Chr.2: 55871052-55871052 on Build GRCh38
365755	c.1188A>G	p.K396K	Chr.2: 55870852-55870852 on Build GRCh38
5458983	c.1202G>A	p.R401Q	Chr.2: 55870838-55870838 on Build GRCh38
5452889	c.1034G>A	p.R345Q	Chr.2: 55871090-55871090 on Build GRCh38
5443529	c.1039G>T	p.D347Y	Chr.2: 55871085-55871085 on Build GRCh38
5397167	c.1001-1G>A	p.?	Chr.2: 55871124-55871124 on Build GRCh38
6467337	c.1111C>T	p.L371L	Chr.2: 55871013-55871013 on Build GRCh38
4397440	c.1230C>T	p.I410I	Chr.2: 55870810-55870810 on Build GRCh38
1483169	c.1201C>T	p.R401*	Chr.2: 55870839-55870839 on Build GRCh38
3582357	c.1171C>T	p.Q391*	Chr.2: 55870869-55870869 on Build GRCh38
1021906	c.1065C>T	p.G355G	Chr.2: 55871059-55871059 on Build GRCh38

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SNP Detail

SNP ID	Chromosome Location
rs1029380408	Chr.2: 55871227-55871227 on Build GRCh38
rs192404906	Chr.2: 55870929-55870929 on Build GRCh38
rs1017206119	Chr.2: 55871238-55871238 on Build GRCh38
rs45535043	Chr.2: 55871137-55871137 on Build GRCh38
rs146446706	Chr.2: 55870880-55870880 on Build GRCh38
rs775080680	Chr.2: 55870838-55870838 on Build GRCh38
rs745343709	Chr.2: 55870933-55870933 on Build GRCh38
rs773568598	Chr.2: 55871150-55871150 on Build GRCh38
rs766866113	Chr.2: 55870882-55870882 on Build GRCh38
rs780590305	Chr.2: 55870931-55870931 on Build GRCh38
rs148823921	Chr.2: 55871005-55871005 on Build GRCh38
rs760845391	Chr.2: 55871017-55871017 on Build GRCh38
rs371175216	Chr.2: 55871142-55871142 on Build GRCh38
rs576071059	Chr.2: 55871088-55871088 on Build GRCh38
rs144184617	Chr.2: 55871232-55871232 on Build GRCh38
rs1012296244	Chr.2: 55870848-55870848 on Build GRCh38
rs184366921	Chr.2: 55871163-55871163 on Build GRCh38
rs747086611	Chr.2: 55870941-55870941 on Build GRCh38
rs772284064	Chr.2: 55871016-55871016 on Build GRCh38
rs765589888	Chr.2: 55871052-55871052 on Build GRCh38
rs777178356	Chr.2: 55871028-55871028 on Build GRCh38
rs755710198	Chr.2: 55871092-55871092 on Build GRCh38
rs771729716	Chr.2: 55871135-55871135 on Build GRCh38
rs776624123	Chr.2: 55871146-55871146 on Build GRCh38
rs769156471	Chr.2: 55870942-55870942 on Build GRCh38
rs779233876	Chr.2: 55870913-55870913 on Build GRCh38
rs781367716	Chr.2: 55870967-55870967 on Build GRCh38
rs868281931	Chr.2: 55871228-55871228 on Build GRCh38
rs767503998	Chr.2: 55870850-55870850 on Build GRCh38
rs574538454	Chr.2: 55871263-55871263 on Build GRCh38
rs962600213	Chr.2: 55871239-55871239 on Build GRCh38
rs762126695	Chr.2: 55870841-55870841 on Build GRCh38
rs754909186	Chr.2: 55871121-55871121 on Build GRCh38
rs756890736	Chr.2: 55871074-55871074 on Build GRCh38
rs768641741	Chr.2: 55870990-55870990 on Build GRCh38
rs367901228	Chr.2: 55870890-55870890 on Build GRCh38
rs374684475	Chr.2: 55870972-55870972 on Build GRCh38
rs145654150	Chr.2: 55871265-55871265 on Build GRCh38
rs1055074015	Chr.2: 55871058-55871058 on Build GRCh38
rs1025522294	Chr.2: 55870934-55870934 on Build GRCh38
rs749245292	Chr.2: 55871120-55871120 on Build GRCh38
rs997820272	Chr.2: 55871198-55871198 on Build GRCh38
rs369049569	Chr.2: 55871039-55871039 on Build GRCh38
rs762143333	Chr.2: 55871006-55871006 on Build GRCh38
rs765694007	Chr.2: 55871161-55871161 on Build GRCh38
rs754310502	Chr.2: 55870885-55870885 on Build GRCh38
rs915936853	Chr.2: 55870862-55870862 on Build GRCh38
rs747183634	Chr.2: 55871139-55871139 on Build GRCh38
rs372748426	Chr.2: 55871051-55871051 on Build GRCh38
rs751279285	Chr.2: 55870920-55870920 on Build GRCh38
rs770059658	Chr.2: 55871144-55871144 on Build GRCh38
rs747909115	Chr.2: 55871130-55871130 on Build GRCh38
rs371636553	Chr.2: 55870944-55870944 on Build GRCh38
rs113138222	Chr.2: 55870999-55870999 on Build GRCh38
rs779708532	Chr.2: 55871108-55871108 on Build GRCh38
rs868466101	Chr.2: 55871002-55871002 on Build GRCh38
rs567386311	Chr.2: 55870830-55870830 on Build GRCh38
rs753001473	Chr.2: 55871053-55871053 on Build GRCh38
rs139142559	Chr.2: 55870829-55870829 on Build GRCh38
rs750022923	Chr.2: 55871090-55871090 on Build GRCh38
rs121434491	Chr.2: 55871091-55871091 on Build GRCh38
rs950047658	Chr.2: 55870876-55870876 on Build GRCh38
rs923282282	Chr.2: 55871136-55871136 on Build GRCh38
rs774225644	Chr.2: 55871004-55871004 on Build GRCh38
rs561554487	Chr.2: 55871249-55871249 on Build GRCh38
rs778868978	Chr.2: 55871126-55871126 on Build GRCh38
rs750455273	Chr.2: 55870875-55870875 on Build GRCh38
rs762613133	Chr.2: 55871003-55871003 on Build GRCh38
rs991475191	Chr.2: 55870834-55870834 on Build GRCh38
rs766343862	Chr.2: 55871018-55871018 on Build GRCh38
rs936807142	Chr.2: 55871203-55871203 on Build GRCh38

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