Product Details

Primer Sequences

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Primer Chromosome Location

Chr.22: 45533676-45533949 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
6661489	c.731G>A	p.R244Q	Chr.22: 45533845-45533845 on Build GRCh38
5881271	c.672_673insT	p.H225fs*29	Chr.22: 45533786-45533787 on Build GRCh38
6661488	c.731G>A	p.R244Q	Chr.22: 45533845-45533845 on Build GRCh38
5881270	c.672_673insT	p.H225fs*29	Chr.22: 45533786-45533787 on Build GRCh38
6661487	c.731G>A	p.R244Q	Chr.22: 45533845-45533845 on Build GRCh38
234705	c.675C>T	p.H225H	Chr.22: 45533789-45533789 on Build GRCh38
5805996	c.672C>A	p.S224R	Chr.22: 45533786-45533786 on Build GRCh38
7321779	c.722G>A	p.R241H	Chr.22: 45533836-45533836 on Build GRCh38
6162541	c.732G>T	p.R244R	Chr.22: 45533846-45533846 on Build GRCh38
3555363	c.721C>T	p.R241C	Chr.22: 45533835-45533835 on Build GRCh38
5805995	c.672C>A	p.S224R	Chr.22: 45533786-45533786 on Build GRCh38
4443446	c.683G>A	p.R228Q	Chr.22: 45533797-45533797 on Build GRCh38
5507238	c.685C>G	p.L229V	Chr.22: 45533799-45533799 on Build GRCh38
7321781	c.722G>A	p.R241H	Chr.22: 45533836-45533836 on Build GRCh38
6095601	c.759G>T	p.E253D	Chr.22: 45533873-45533873 on Build GRCh38
5639052	c.771_772insA	p.N258fs*2	Chr.22: 45533885-45533886 on Build GRCh38
7321783	c.722G>A	p.R241H	Chr.22: 45533836-45533836 on Build GRCh38
5881269	c.672_673insT	p.H225fs*29	Chr.22: 45533786-45533787 on Build GRCh38
6661491	c.731G>A	p.R244Q	Chr.22: 45533845-45533845 on Build GRCh38
479068	c.747G>A	p.G249G	Chr.22: 45533861-45533861 on Build GRCh38
1416814	c.721C>T	p.R241C	Chr.22: 45533835-45533835 on Build GRCh38
5639051	c.771_772insA	p.N258fs*2	Chr.22: 45533885-45533886 on Build GRCh38
7321782	c.722G>A	p.R241H	Chr.22: 45533836-45533836 on Build GRCh38
234706	c.675C>T	p.H225H	Chr.22: 45533789-45533789 on Build GRCh38
1416812	c.721C>T	p.R241C	Chr.22: 45533835-45533835 on Build GRCh38
1206694	c.745G>A	p.G249R	Chr.22: 45533859-45533859 on Build GRCh38
5507237	c.685C>G	p.L229V	Chr.22: 45533799-45533799 on Build GRCh38
5805994	c.672C>A	p.S224R	Chr.22: 45533786-45533786 on Build GRCh38
6661490	c.731G>A	p.R244Q	Chr.22: 45533845-45533845 on Build GRCh38
4443449	c.683G>A	p.R228Q	Chr.22: 45533797-45533797 on Build GRCh38
5507236	c.685C>G	p.L229V	Chr.22: 45533799-45533799 on Build GRCh38
5881272	c.672_673insT	p.H225fs*29	Chr.22: 45533786-45533787 on Build GRCh38
4443448	c.683G>A	p.R228Q	Chr.22: 45533797-45533797 on Build GRCh38
1206692	c.745G>A	p.G249R	Chr.22: 45533859-45533859 on Build GRCh38
6162540	c.732G>T	p.R244R	Chr.22: 45533846-45533846 on Build GRCh38
6162539	c.732G>T	p.R244R	Chr.22: 45533846-45533846 on Build GRCh38
5639050	c.771_772insA	p.N258fs*2	Chr.22: 45533885-45533886 on Build GRCh38
1416813	c.721C>T	p.R241C	Chr.22: 45533835-45533835 on Build GRCh38
5805997	c.672C>A	p.S224R	Chr.22: 45533786-45533786 on Build GRCh38
4443447	c.683G>A	p.R228Q	Chr.22: 45533797-45533797 on Build GRCh38
6095600	c.759G>T	p.E253D	Chr.22: 45533873-45533873 on Build GRCh38
6095599	c.759G>T	p.E253D	Chr.22: 45533873-45533873 on Build GRCh38
1206693	c.745G>A	p.G249R	Chr.22: 45533859-45533859 on Build GRCh38
6162538	c.732G>T	p.R244R	Chr.22: 45533846-45533846 on Build GRCh38
5507235	c.685C>G	p.L229V	Chr.22: 45533799-45533799 on Build GRCh38
6095598	c.759G>T	p.E253D	Chr.22: 45533873-45533873 on Build GRCh38
5639053	c.771_772insA	p.N258fs*2	Chr.22: 45533885-45533886 on Build GRCh38
7321780	c.722G>A	p.R241H	Chr.22: 45533836-45533836 on Build GRCh38

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SNP Detail

SNP ID	Chromosome Location
rs199991452	Chr.22: 45533738-45533738 on Build GRCh38
rs3216851	Chr.22: 45533715-45533715 on Build GRCh38
rs776907746	Chr.22: 45533724-45533724 on Build GRCh38
rs369567067	Chr.22: 45533719-45533719 on Build GRCh38
rs775408699	Chr.22: 45533797-45533797 on Build GRCh38
rs760570023	Chr.22: 45533800-45533800 on Build GRCh38
rs532883593	Chr.22: 45533744-45533744 on Build GRCh38
rs374402590	Chr.22: 45533908-45533908 on Build GRCh38
rs562978224	Chr.22: 45533801-45533801 on Build GRCh38
rs772506222	Chr.22: 45533718-45533718 on Build GRCh38
rs748672066	Chr.22: 45533845-45533845 on Build GRCh38
rs545434511	Chr.22: 45533749-45533749 on Build GRCh38
rs369112052	Chr.22: 45533779-45533779 on Build GRCh38
rs113737102	Chr.22: 45533899-45533899 on Build GRCh38
rs768455798	Chr.22: 45533907-45533907 on Build GRCh38
rs756238855	Chr.22: 45533910-45533920 on Build GRCh38
rs780533565	Chr.22: 45533768-45533768 on Build GRCh38
rs750101464	Chr.22: 45533763-45533763 on Build GRCh38
rs144129499	Chr.22: 45533771-45533771 on Build GRCh38
rs763577133	Chr.22: 45533739-45533739 on Build GRCh38
rs1025624953	Chr.22: 45533862-45533862 on Build GRCh38
rs140981949	Chr.22: 45533814-45533814 on Build GRCh38
rs370004105	Chr.22: 45533910-45533910 on Build GRCh38
rs774464064	Chr.22: 45533887-45533887 on Build GRCh38
rs549459139	Chr.22: 45533844-45533844 on Build GRCh38
rs371726470	Chr.22: 45533780-45533780 on Build GRCh38
rs762096216	Chr.22: 45533731-45533731 on Build GRCh38
rs756260694	Chr.22: 45533850-45533850 on Build GRCh38
rs146491057	Chr.22: 45533775-45533775 on Build GRCh38
rs776568892	Chr.22: 45533802-45533802 on Build GRCh38
rs16994211	Chr.22: 45533734-45533734 on Build GRCh38
rs761252663	Chr.22: 45533809-45533809 on Build GRCh38
rs911021376	Chr.22: 45533914-45533914 on Build GRCh38
rs201033702	Chr.22: 45533722-45533722 on Build GRCh38
rs566373261	Chr.22: 45533915-45533915 on Build GRCh38
rs767352348	Chr.22: 45533736-45533736 on Build GRCh38
rs952609235	Chr.22: 45533896-45533896 on Build GRCh38
rs105199	Chr.22: 45533697-45533697 on Build GRCh38
rs749594164	Chr.22: 45533789-45533789 on Build GRCh38
rs113516927	Chr.22: 45533858-45533858 on Build GRCh38
rs766630351	Chr.22: 45533830-45533830 on Build GRCh38
rs564562355	Chr.22: 45533745-45533745 on Build GRCh38
rs746176353	Chr.22: 45533717-45533717 on Build GRCh38
rs758621512	Chr.22: 45533767-45533767 on Build GRCh38
rs751912120	Chr.22: 45533835-45533835 on Build GRCh38
rs746761923	Chr.22: 45533893-45533893 on Build GRCh38
rs372048171	Chr.22: 45533720-45533720 on Build GRCh38
rs377281271	Chr.22: 45533909-45533909 on Build GRCh38
rs755416957	Chr.22: 45533836-45533836 on Build GRCh38
rs892038183	Chr.22: 45533748-45533748 on Build GRCh38
rs777970776	Chr.22: 45533852-45533852 on Build GRCh38
rs58965835	Chr.22: 45533805-45533805 on Build GRCh38
rs972747723	Chr.22: 45533849-45533849 on Build GRCh38
rs771229284	Chr.22: 45533869-45533869 on Build GRCh38
rs758127225	Chr.22: 45533816-45533816 on Build GRCh38
rs1001988378	Chr.22: 45533834-45533834 on Build GRCh38
rs933597293	Chr.22: 45533791-45533791 on Build GRCh38
rs542978755	Chr.22: 45533796-45533796 on Build GRCh38

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