Product Details

Primer Sequences

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Primer Chromosome Location

Chr.2: 27083052-27083576 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

EMILIN1

Entrez Gene ID

11117

Gene Name

elastin microfibril interfacer 1

Gene Aliases

EMI, EMILIN, gp115

UniGene

Hs.63348

Gene Chromosome Location

Chr.2: 27078567-27086403 on Build GRCh38

Transcripts

NM_007046.3

Cosmic Detail

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Cosmic ID	Mutation	AA	Transcript Location
1019499	c.1780C>T	p.R594C	Chr.2: 27083351-27083351 on Build GRCh38
5465526	c.1898G>A	p.G633E	Chr.2: 27083469-27083469 on Build GRCh38
1019501	c.1921C>A	p.Q641K	Chr.2: 27083492-27083492 on Build GRCh38
6900923	c.1987G>A	p.E663K	Chr.2: 27083558-27083558 on Build GRCh38
3580501	c.1510G>A	p.V504M	Chr.2: 27083081-27083081 on Build GRCh38
477249	c.1793G>C	p.G598A	Chr.2: 27083364-27083364 on Build GRCh38
6843344	c.1965C>A	p.S655R	Chr.2: 27083536-27083536 on Build GRCh38
5344185	c.1622G>A	p.R541Q	Chr.2: 27083193-27083193 on Build GRCh38
5766015	c.1594C>T	p.L532L	Chr.2: 27083165-27083165 on Build GRCh38
4093457	c.1781G>A	p.R594H	Chr.2: 27083352-27083352 on Build GRCh38
5150520	c.1759G>A	p.G587R	Chr.2: 27083330-27083330 on Build GRCh38
4312397	c.1771G>A	p.E591K	Chr.2: 27083342-27083342 on Build GRCh38
4680865	c.1864A>C	p.S622R	Chr.2: 27083435-27083435 on Build GRCh38
1205246	c.1786C>T	p.R596W	Chr.2: 27083357-27083357 on Build GRCh38
7296397	c.1593G>A	p.T531T	Chr.2: 27083164-27083164 on Build GRCh38
5617127	c.1816C>T	p.L606L	Chr.2: 27083387-27083387 on Build GRCh38
7248654	c.1659T>G	p.A553A	Chr.2: 27083230-27083230 on Build GRCh38
5587716	c.1789G>A	p.D597N	Chr.2: 27083360-27083360 on Build GRCh38
4637432	c.1868G>A	p.R623H	Chr.2: 27083439-27083439 on Build GRCh38
6091024	c.1879G>A	p.D627N	Chr.2: 27083450-27083450 on Build GRCh38
5561134	c.1682A>T	p.N561I	Chr.2: 27083253-27083253 on Build GRCh38
5000667	c.1812delC	p.L606fs*56	Chr.2: 27083383-27083383 on Build GRCh38
6567235	c.1798G>C	p.E600Q	Chr.2: 27083369-27083369 on Build GRCh38
4583425	c.1736A>T	p.D579V	Chr.2: 27083307-27083307 on Build GRCh38
5505722	c.1813C>A	p.P605T	Chr.2: 27083384-27083384 on Build GRCh38
1019500	c.1858G>T	p.G620C	Chr.2: 27083429-27083429 on Build GRCh38
5988514	c.1511T>C	p.V504A	Chr.2: 27083082-27083082 on Build GRCh38
6509186	c.1584G>A	p.R528R	Chr.2: 27083155-27083155 on Build GRCh38
4529323	c.1601G>A	p.G534E	Chr.2: 27083172-27083172 on Build GRCh38
5469204	c.1788G>C	p.R596R	Chr.2: 27083359-27083359 on Build GRCh38
5883432	c.1505G>T	p.R502L	Chr.2: 27083076-27083076 on Build GRCh38
6895159	c.1956C>G	p.L652L	Chr.2: 27083527-27083527 on Build GRCh38
5438176	c.1831G>T	p.G611C	Chr.2: 27083402-27083402 on Build GRCh38
5770399	c.1548C>T	p.S516S	Chr.2: 27083119-27083119 on Build GRCh38
4093458	c.1782C>T	p.R594R	Chr.2: 27083353-27083353 on Build GRCh38
4093456	c.1758C>T	p.G586G	Chr.2: 27083329-27083329 on Build GRCh38
4473816	c.1875C>T	p.P625P	Chr.2: 27083446-27083446 on Build GRCh38
5181440	c.1572delG	p.E526fs*35	Chr.2: 27083143-27083143 on Build GRCh38
4312398	c.1905C>A	p.S635R	Chr.2: 27083476-27083476 on Build GRCh38
3962724	c.1547C>T	p.S516F	Chr.2: 27083118-27083118 on Build GRCh38
5150519	c.1750G>A	p.A584T	Chr.2: 27083321-27083321 on Build GRCh38
4133771	c.1548C>A	p.S516S	Chr.2: 27083119-27083119 on Build GRCh38
5619565	c.1666T>C	p.F556L	Chr.2: 27083237-27083237 on Build GRCh38
3910109	c.1949T>G	p.V650G	Chr.2: 27083520-27083520 on Build GRCh38
7366187	c.1738G>C	p.E580Q	Chr.2: 27083309-27083309 on Build GRCh38
6246377	c.1526G>T	p.G509V	Chr.2: 27083097-27083097 on Build GRCh38
6653699	c.1802G>A	p.R601H	Chr.2: 27083373-27083373 on Build GRCh38
6236034	c.1722G>A	p.L574L	Chr.2: 27083293-27083293 on Build GRCh38
6653697	c.1572G>A	p.A524A	Chr.2: 27083143-27083143 on Build GRCh38
5087028	c.1947G>T	p.E649D	Chr.2: 27083518-27083518 on Build GRCh38
272637	c.1811_1812insC	p.L606fs*44	Chr.2: 27083382-27083383 on Build GRCh38
4583424	c.1608A>G	p.Q536Q	Chr.2: 27083179-27083179 on Build GRCh38

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SNP Detail

SNP ID	Chromosome Location
rs553403745	Chr.2: 27083399-27083399 on Build GRCh38
rs139944533	Chr.2: 27083339-27083339 on Build GRCh38
rs780673311	Chr.2: 27083544-27083544 on Build GRCh38
rs765535997	Chr.2: 27083498-27083498 on Build GRCh38
rs955650542	Chr.2: 27083231-27083231 on Build GRCh38
rs771549929	Chr.2: 27083312-27083312 on Build GRCh38
rs894151361	Chr.2: 27083084-27083084 on Build GRCh38
rs374940182	Chr.2: 27083119-27083119 on Build GRCh38
rs781500770	Chr.2: 27083189-27083189 on Build GRCh38
rs959396358	Chr.2: 27083340-27083340 on Build GRCh38
rs993771955	Chr.2: 27083362-27083362 on Build GRCh38
rs745565616	Chr.2: 27083372-27083372 on Build GRCh38
rs369967327	Chr.2: 27083346-27083346 on Build GRCh38
rs146042569	Chr.2: 27083127-27083127 on Build GRCh38
rs747577622	Chr.2: 27083117-27083117 on Build GRCh38
rs766052971	Chr.2: 27083138-27083138 on Build GRCh38
rs745504669	Chr.2: 27083309-27083309 on Build GRCh38
rs201549569	Chr.2: 27083534-27083534 on Build GRCh38
rs563926619	Chr.2: 27083106-27083106 on Build GRCh38
rs761704114	Chr.2: 27083402-27083402 on Build GRCh38
rs774000688	Chr.2: 27083205-27083205 on Build GRCh38
rs917814042	Chr.2: 27083366-27083366 on Build GRCh38
rs760787529	Chr.2: 27083466-27083466 on Build GRCh38
rs1024384968	Chr.2: 27083109-27083109 on Build GRCh38
rs534036052	Chr.2: 27083379-27083379 on Build GRCh38
rs754465328	Chr.2: 27083487-27083487 on Build GRCh38
rs372213065	Chr.2: 27083120-27083120 on Build GRCh38
rs569070507	Chr.2: 27083204-27083204 on Build GRCh38
rs748137973	Chr.2: 27083546-27083546 on Build GRCh38
rs769640832	Chr.2: 27083403-27083403 on Build GRCh38
rs765651075	Chr.2: 27083382-27083383 on Build GRCh38
rs753749516	Chr.2: 27083439-27083439 on Build GRCh38
rs748418310	Chr.2: 27083125-27083125 on Build GRCh38
rs758022469	Chr.2: 27083510-27083510 on Build GRCh38
rs373844330	Chr.2: 27083131-27083131 on Build GRCh38
rs11548683	Chr.2: 27083278-27083278 on Build GRCh38
rs759528710	Chr.2: 27083143-27083143 on Build GRCh38
rs756693825	Chr.2: 27083351-27083351 on Build GRCh38
rs778294240	Chr.2: 27083269-27083269 on Build GRCh38
rs766551959	Chr.2: 27083258-27083258 on Build GRCh38
rs752561430	Chr.2: 27083153-27083153 on Build GRCh38
rs138622931	Chr.2: 27083193-27083193 on Build GRCh38
rs753208706	Chr.2: 27083267-27083267 on Build GRCh38
rs759797521	Chr.2: 27083338-27083338 on Build GRCh38
rs757827777	Chr.2: 27083491-27083491 on Build GRCh38
rs759690238	Chr.2: 27083412-27083412 on Build GRCh38
rs776444866	Chr.2: 27083330-27083330 on Build GRCh38
rs770737371	Chr.2: 27083282-27083282 on Build GRCh38
rs775054889	Chr.2: 27083316-27083316 on Build GRCh38
rs868583812	Chr.2: 27083495-27083495 on Build GRCh38
rs749597209	Chr.2: 27083281-27083281 on Build GRCh38
rs763918677	Chr.2: 27083159-27083159 on Build GRCh38
rs767318349	Chr.2: 27083149-27083149 on Build GRCh38
rs773706697	Chr.2: 27083202-27083202 on Build GRCh38
rs750735646	Chr.2: 27083503-27083503 on Build GRCh38
rs541909854	Chr.2: 27083104-27083104 on Build GRCh38
rs1030348145	Chr.2: 27083484-27083484 on Build GRCh38
rs552485083	Chr.2: 27083130-27083130 on Build GRCh38
rs752203222	Chr.2: 27083373-27083373 on Build GRCh38
rs746068703	Chr.2: 27083110-27083110 on Build GRCh38
rs767033564	Chr.2: 27083219-27083219 on Build GRCh38
rs773984791	Chr.2: 27083142-27083142 on Build GRCh38
rs769659278	Chr.2: 27083552-27083552 on Build GRCh38
rs906833541	Chr.2: 27083356-27083356 on Build GRCh38
rs752751079	Chr.2: 27083453-27083453 on Build GRCh38
rs779711180	Chr.2: 27083515-27083515 on Build GRCh38
rs534735729	Chr.2: 27083105-27083105 on Build GRCh38
rs754961210	Chr.2: 27083100-27083100 on Build GRCh38
rs753576764	Chr.2: 27083247-27083247 on Build GRCh38
rs573167279	Chr.2: 27083333-27083333 on Build GRCh38
rs139678896	Chr.2: 27083232-27083232 on Build GRCh38
rs36069611	Chr.2: 27083178-27083178 on Build GRCh38
rs200339477	Chr.2: 27083352-27083352 on Build GRCh38
rs908618660	Chr.2: 27083096-27083096 on Build GRCh38
rs773043123	Chr.2: 27083411-27083411 on Build GRCh38
rs778758313	Chr.2: 27083304-27083304 on Build GRCh38
rs767710118	Chr.2: 27083452-27083452 on Build GRCh38
rs768517659	Chr.2: 27083328-27083328 on Build GRCh38
rs553033062	Chr.2: 27083486-27083486 on Build GRCh38
rs371170446	Chr.2: 27083154-27083154 on Build GRCh38
rs117801783	Chr.2: 27083182-27083182 on Build GRCh38
rs767621068	Chr.2: 27083357-27083357 on Build GRCh38
rs763235759	Chr.2: 27083179-27083179 on Build GRCh38
rs994137663	Chr.2: 27083129-27083129 on Build GRCh38
rs375599106	Chr.2: 27083163-27083163 on Build GRCh38
rs976135721	Chr.2: 27083177-27083177 on Build GRCh38
rs754519478	Chr.2: 27083538-27083538 on Build GRCh38
rs760545096	Chr.2: 27083318-27083318 on Build GRCh38
rs756629138	Chr.2: 27083268-27083268 on Build GRCh38
rs34487849	Chr.2: 27083164-27083164 on Build GRCh38
rs781297451	Chr.2: 27083266-27083266 on Build GRCh38
rs751767343	Chr.2: 27083335-27083335 on Build GRCh38
rs758626189	Chr.2: 27083251-27083251 on Build GRCh38
rs376032560	Chr.2: 27083400-27083400 on Build GRCh38
rs181718238	Chr.2: 27083152-27083152 on Build GRCh38
rs751586097	Chr.2: 27083076-27083076 on Build GRCh38
rs539237417	Chr.2: 27083218-27083218 on Build GRCh38
rs368718986	Chr.2: 27083116-27083116 on Build GRCh38
rs770092227	Chr.2: 27083197-27083197 on Build GRCh38
rs751584697	Chr.2: 27083263-27083263 on Build GRCh38
rs202157641	Chr.2: 27083112-27083112 on Build GRCh38
rs755537123	Chr.2: 27083183-27083183 on Build GRCh38
rs751658031	Chr.2: 27083262-27083262 on Build GRCh38
rs779417501	Chr.2: 27083358-27083358 on Build GRCh38
rs141929856	Chr.2: 27083246-27083246 on Build GRCh38

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