Product Details

Primer Sequences

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Primer Chromosome Location

Chr.22: 45525451-45525949 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

FBLN1

Entrez Gene ID

2192

Gene Name

fibulin 1

Gene Aliases

FBLN, FIBL1

UniGene

Hs.24601

Gene Chromosome Location

Chr.22: 45502839-45601134 on Build GRCh38

Transcripts

NM_001996.3 NM_006485.3 NM_006486.2 NM_006487.2

Cosmic Detail

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Cosmic ID	Mutation	AA	Transcript Location
7310130	c.317_321+8delTGAAGGTGAGAGC	p.?	Chr.22: 45525674-45525686 on Build GRCh38
7367831	c.239C>A	p.T80K	Chr.22: 45525596-45525596 on Build GRCh38
7298242	c.209A>G	p.H70R	Chr.22: 45525566-45525566 on Build GRCh38
4484598	c.282C>T	p.P94P	Chr.22: 45525639-45525639 on Build GRCh38
7367833	c.239C>A	p.T80K	Chr.22: 45525596-45525596 on Build GRCh38
3668620	c.286G>A	p.G96S	Chr.22: 45525643-45525643 on Build GRCh38
5452523	c.225G>A	p.E75E	Chr.22: 45525582-45525582 on Build GRCh38
5808521	c.307G>T	p.A103S	Chr.22: 45525664-45525664 on Build GRCh38
6004859	c.269G>A	p.R90H	Chr.22: 45525626-45525626 on Build GRCh38
6408000	c.295G>A	p.A99T	Chr.22: 45525652-45525652 on Build GRCh38
5968077	c.282C>A	p.P94P	Chr.22: 45525639-45525639 on Build GRCh38
7310131	c.317_321+8delTGAAGGTGAGAGC	p.?	Chr.22: 45525674-45525686 on Build GRCh38
5680746	c.230A>G	p.H77R	Chr.22: 45525587-45525587 on Build GRCh38
7367836	c.269G>A	p.R90H	Chr.22: 45525626-45525626 on Build GRCh38
5718488	c.204C>A	p.C68*	Chr.22: 45525561-45525561 on Build GRCh38
7298243	c.209A>G	p.H70R	Chr.22: 45525566-45525566 on Build GRCh38
6383276	c.263A>G	p.Q88R	Chr.22: 45525620-45525620 on Build GRCh38
7310133	c.317_321+8delTGAAGGTGAGAGC	p.?	Chr.22: 45525674-45525686 on Build GRCh38
4958979	c.250C>T	p.L84L	Chr.22: 45525607-45525607 on Build GRCh38
5452526	c.225G>A	p.E75E	Chr.22: 45525582-45525582 on Build GRCh38
7298245	c.209A>G	p.H70R	Chr.22: 45525566-45525566 on Build GRCh38
6004862	c.269G>A	p.R90H	Chr.22: 45525626-45525626 on Build GRCh38
5808520	c.307G>T	p.A103S	Chr.22: 45525664-45525664 on Build GRCh38
4484601	c.282C>T	p.P94P	Chr.22: 45525639-45525639 on Build GRCh38
7298244	c.209A>G	p.H70R	Chr.22: 45525566-45525566 on Build GRCh38
1616556	c.296C>A	p.A99D	Chr.22: 45525653-45525653 on Build GRCh38
3668621	c.286G>A	p.G96S	Chr.22: 45525643-45525643 on Build GRCh38
5452525	c.225G>A	p.E75E	Chr.22: 45525582-45525582 on Build GRCh38
6408002	c.295G>A	p.A99T	Chr.22: 45525652-45525652 on Build GRCh38
4958982	c.250C>T	p.L84L	Chr.22: 45525607-45525607 on Build GRCh38
5452524	c.225G>A	p.E75E	Chr.22: 45525582-45525582 on Build GRCh38
5808523	c.307G>T	p.A103S	Chr.22: 45525664-45525664 on Build GRCh38
6383278	c.263A>G	p.Q88R	Chr.22: 45525620-45525620 on Build GRCh38
5122317	c.236C>T	p.A79V	Chr.22: 45525593-45525593 on Build GRCh38
5718490	c.204C>A	p.C68*	Chr.22: 45525561-45525561 on Build GRCh38
7367832	c.239C>A	p.T80K	Chr.22: 45525596-45525596 on Build GRCh38
6004860	c.269G>A	p.R90H	Chr.22: 45525626-45525626 on Build GRCh38
6004861	c.269G>A	p.R90H	Chr.22: 45525626-45525626 on Build GRCh38
5680747	c.230A>G	p.H77R	Chr.22: 45525587-45525587 on Build GRCh38
4958980	c.250C>T	p.L84L	Chr.22: 45525607-45525607 on Build GRCh38
5968078	c.282C>A	p.P94P	Chr.22: 45525639-45525639 on Build GRCh38
4958981	c.250C>T	p.L84L	Chr.22: 45525607-45525607 on Build GRCh38
5808522	c.307G>T	p.A103S	Chr.22: 45525664-45525664 on Build GRCh38
7310129	c.317_321+8delTGAAGGTGAGAGC	p.?	Chr.22: 45525674-45525686 on Build GRCh38
5718489	c.204C>A	p.C68*	Chr.22: 45525561-45525561 on Build GRCh38
7367835	c.239C>A	p.T80K	Chr.22: 45525596-45525596 on Build GRCh38
7298241	c.209A>G	p.H70R	Chr.22: 45525566-45525566 on Build GRCh38
6407999	c.295G>A	p.A99T	Chr.22: 45525652-45525652 on Build GRCh38
1616557	c.296C>A	p.A99D	Chr.22: 45525653-45525653 on Build GRCh38
7367834	c.239C>A	p.T80K	Chr.22: 45525596-45525596 on Build GRCh38
1616555	c.296C>A	p.A99D	Chr.22: 45525653-45525653 on Build GRCh38
5680745	c.230A>G	p.H77R	Chr.22: 45525587-45525587 on Build GRCh38
3668622	c.286G>A	p.G96S	Chr.22: 45525643-45525643 on Build GRCh38
6407998	c.295G>A	p.A99T	Chr.22: 45525652-45525652 on Build GRCh38
6383275	c.263A>G	p.Q88R	Chr.22: 45525620-45525620 on Build GRCh38
7310132	c.317_321+8delTGAAGGTGAGAGC	p.?	Chr.22: 45525674-45525686 on Build GRCh38
6383274	c.263A>G	p.Q88R	Chr.22: 45525620-45525620 on Build GRCh38
5968080	c.282C>A	p.P94P	Chr.22: 45525639-45525639 on Build GRCh38
5718487	c.204C>A	p.C68*	Chr.22: 45525561-45525561 on Build GRCh38
4484600	c.282C>T	p.P94P	Chr.22: 45525639-45525639 on Build GRCh38
5680744	c.230A>G	p.H77R	Chr.22: 45525587-45525587 on Build GRCh38
4484599	c.282C>T	p.P94P	Chr.22: 45525639-45525639 on Build GRCh38
6408001	c.295G>A	p.A99T	Chr.22: 45525652-45525652 on Build GRCh38
3668623	c.286G>A	p.G96S	Chr.22: 45525643-45525643 on Build GRCh38
6383277	c.263A>G	p.Q88R	Chr.22: 45525620-45525620 on Build GRCh38
5968079	c.282C>A	p.P94P	Chr.22: 45525639-45525639 on Build GRCh38

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SNP Detail

SNP ID	Chromosome Location
rs949378953	Chr.22: 45525843-45525843 on Build GRCh38
rs899838999	Chr.22: 45525867-45525867 on Build GRCh38
rs778380062	Chr.22: 45525684-45525684 on Build GRCh38
rs543812078	Chr.22: 45525824-45525824 on Build GRCh38
rs544700253	Chr.22: 45525763-45525763 on Build GRCh38
rs567083399	Chr.22: 45525579-45525579 on Build GRCh38
rs368018969	Chr.22: 45525626-45525626 on Build GRCh38
rs886044038	Chr.22: 45525625-45525625 on Build GRCh38
rs370798546	Chr.22: 45525510-45525510 on Build GRCh38
rs138539092	Chr.22: 45525661-45525661 on Build GRCh38
rs1027120417	Chr.22: 45525683-45525683 on Build GRCh38
rs912999730	Chr.22: 45525765-45525765 on Build GRCh38
rs78093624	Chr.22: 45525912-45525912 on Build GRCh38
rs1107180	Chr.22: 45525479-45525479 on Build GRCh38
rs760941976	Chr.22: 45525501-45525501 on Build GRCh38
rs575149802	Chr.22: 45525832-45525832 on Build GRCh38
rs775214962	Chr.22: 45525836-45525836 on Build GRCh38
rs937300677	Chr.22: 45525483-45525483 on Build GRCh38
rs375822132	Chr.22: 45525725-45525725 on Build GRCh38
rs189270282	Chr.22: 45525920-45525920 on Build GRCh38
rs765918593	Chr.22: 45525636-45525636 on Build GRCh38
rs961815846	Chr.22: 45525910-45525910 on Build GRCh38
rs56867178	Chr.22: 45525885-45525885 on Build GRCh38
rs61739196	Chr.22: 45525669-45525669 on Build GRCh38
rs560752349	Chr.22: 45525866-45525866 on Build GRCh38
rs189845806	Chr.22: 45525712-45525712 on Build GRCh38
rs6007075	Chr.22: 45525751-45525751 on Build GRCh38
rs184508112	Chr.22: 45525903-45525903 on Build GRCh38
rs116717144	Chr.22: 45525731-45525731 on Build GRCh38
rs772228974	Chr.22: 45525488-45525488 on Build GRCh38
rs947253172	Chr.22: 45525780-45525780 on Build GRCh38
rs375315857	Chr.22: 45525534-45525534 on Build GRCh38
rs774375731	Chr.22: 45525496-45525496 on Build GRCh38
rs968476479	Chr.22: 45525928-45525928 on Build GRCh38
rs1008766416	Chr.22: 45525858-45525858 on Build GRCh38
rs761714606	Chr.22: 45525547-45525547 on Build GRCh38
rs954761389	Chr.22: 45525909-45525909 on Build GRCh38
rs746061604	Chr.22: 45525726-45525726 on Build GRCh38
rs144641263	Chr.22: 45525572-45525572 on Build GRCh38
rs767975618	Chr.22: 45525666-45525666 on Build GRCh38
rs552439093	Chr.22: 45525642-45525642 on Build GRCh38
rs1004368466	Chr.22: 45525899-45525899 on Build GRCh38
rs1055571235	Chr.22: 45525540-45525540 on Build GRCh38
rs377564154	Chr.22: 45525505-45525505 on Build GRCh38
rs1019897040	Chr.22: 45525914-45525914 on Build GRCh38
rs374735473	Chr.22: 45525694-45525694 on Build GRCh38
rs373175037	Chr.22: 45525711-45525711 on Build GRCh38
rs114598308	Chr.22: 45525876-45525876 on Build GRCh38
rs547185380	Chr.22: 45525487-45525487 on Build GRCh38
rs181460643	Chr.22: 45525890-45525890 on Build GRCh38
rs567195657	Chr.22: 45525705-45525705 on Build GRCh38
rs776464992	Chr.22: 45525506-45525506 on Build GRCh38
rs938304525	Chr.22: 45525819-45525819 on Build GRCh38
rs150306228	Chr.22: 45525768-45525768 on Build GRCh38
rs1027256761	Chr.22: 45525884-45525884 on Build GRCh38
rs988521136	Chr.22: 45525475-45525475 on Build GRCh38
rs560957603	Chr.22: 45525825-45525825 on Build GRCh38
rs886551080	Chr.22: 45525870-45525870 on Build GRCh38
rs542410173	Chr.22: 45525777-45525777 on Build GRCh38
rs773164006	Chr.22: 45525615-45525615 on Build GRCh38
rs554954339	Chr.22: 45525681-45525681 on Build GRCh38
rs753155232	Chr.22: 45525668-45525668 on Build GRCh38
rs199802935	Chr.22: 45525643-45525643 on Build GRCh38
rs746104674	Chr.22: 45525499-45525499 on Build GRCh38
rs532634606	Chr.22: 45525622-45525622 on Build GRCh38
rs925467766	Chr.22: 45525809-45525809 on Build GRCh38
rs372586119	Chr.22: 45525724-45525724 on Build GRCh38
rs773281950	Chr.22: 45525489-45525489 on Build GRCh38
rs996376844	Chr.22: 45525896-45525896 on Build GRCh38

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