Product Details

Primer Sequences

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Primer Chromosome Location

Chr.2: 55870787-55871014 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
280730	c.1124+8A>G	p.?	Chr.2: 55870992-55870992 on Build GRCh38
3582355	c.1205C>T	p.S402F	Chr.2: 55870835-55870835 on Build GRCh38
3391796	c.1242G>A	p.Q414Q	Chr.2: 55870798-55870798 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
6467337	c.1111C>T	p.L371L	Chr.2: 55871013-55871013 on Build GRCh38
5674373	c.1189T>C	p.Y397H	Chr.2: 55870851-55870851 on Build GRCh38
4397440	c.1230C>T	p.I410I	Chr.2: 55870810-55870810 on Build GRCh38
5637761	c.1160G>A	p.R387Q	Chr.2: 55870880-55870880 on Build GRCh38
7208260	c.1167G>T	p.L389L	Chr.2: 55870873-55870873 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

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SNP Detail

SNP ID	Chromosome Location
rs192404906	Chr.2: 55870929-55870929 on Build GRCh38
rs762126695	Chr.2: 55870841-55870841 on Build GRCh38
rs146446706	Chr.2: 55870880-55870880 on Build GRCh38
rs367901228	Chr.2: 55870890-55870890 on Build GRCh38
rs775080680	Chr.2: 55870838-55870838 on Build GRCh38
rs745343709	Chr.2: 55870933-55870933 on Build GRCh38
rs766866113	Chr.2: 55870882-55870882 on Build GRCh38
rs374684475	Chr.2: 55870972-55870972 on Build GRCh38
rs1025522294	Chr.2: 55870934-55870934 on Build GRCh38
rs780590305	Chr.2: 55870931-55870931 on Build GRCh38
rs1012296244	Chr.2: 55870848-55870848 on Build GRCh38
rs754310502	Chr.2: 55870885-55870885 on Build GRCh38
rs915936853	Chr.2: 55870862-55870862 on Build GRCh38
rs751279285	Chr.2: 55870920-55870920 on Build GRCh38
rs747086611	Chr.2: 55870941-55870941 on Build GRCh38
rs371636553	Chr.2: 55870944-55870944 on Build GRCh38
rs567386311	Chr.2: 55870830-55870830 on Build GRCh38
rs139142559	Chr.2: 55870829-55870829 on Build GRCh38
rs950047658	Chr.2: 55870876-55870876 on Build GRCh38
rs775180017	Chr.2: 55870819-55870819 on Build GRCh38
rs769156471	Chr.2: 55870942-55870942 on Build GRCh38
rs750455273	Chr.2: 55870875-55870875 on Build GRCh38
rs779233876	Chr.2: 55870913-55870913 on Build GRCh38
rs991475191	Chr.2: 55870834-55870834 on Build GRCh38
rs781367716	Chr.2: 55870967-55870967 on Build GRCh38
rs767503998	Chr.2: 55870850-55870850 on Build GRCh38

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