Product Details

Primer Sequences: Log in to view
Primer Chromosome Location: Chr.9: 127824719-127824988 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: ENG
Entrez Gene ID: 2022
Gene Name: endoglin
Gene Aliases: END, HHT1, ORW1
UniGene: Hs.76753
Gene Chromosome Location: Chr.9: 127815012-127854773 on Build GRCh38
Transcripts: NM_000118.3 NM_001114753.2 NM_001278138.1

Cosmic Detail

Cosmic ID	Mutation	AA	Transcript Location
7247338	c.971C>G	p.S324*	Chr.9: 127824820-127824820 on Build GRCh38
7247339	c.971C>G	p.S324*	Chr.9: 127824820-127824820 on Build GRCh38
5063630	c.908C>T	p.A303V	Chr.9: 127824883-127824883 on Build GRCh38
5544900	c.976C>T	p.H326Y	Chr.9: 127824815-127824815 on Build GRCh38
3929814	c.981C>T	p.A327A	Chr.9: 127824810-127824810 on Build GRCh38
3904307	c.943G>A	p.V315M	Chr.9: 127824848-127824848 on Build GRCh38
3929815	c.981C>T	p.A327A	Chr.9: 127824810-127824810 on Build GRCh38
3904308	c.943G>A	p.V315M	Chr.9: 127824848-127824848 on Build GRCh38
6550490	c.912G>A	p.R304R	Chr.9: 127824879-127824879 on Build GRCh38
4370662	c.958G>A	p.A320T	Chr.9: 127824833-127824833 on Build GRCh38
6564387	c.957G>A	p.L319L	Chr.9: 127824834-127824834 on Build GRCh38
5767431	c.922G>A	p.A308T	Chr.9: 127824869-127824869 on Build GRCh38
5767430	c.922G>A	p.A308T	Chr.9: 127824869-127824869 on Build GRCh38
6550491	c.912G>A	p.R304R	Chr.9: 127824879-127824879 on Build GRCh38
6564388	c.957G>A	p.L319L	Chr.9: 127824834-127824834 on Build GRCh38
1701767	c.976C>T	p.H326Y	Chr.9: 127824815-127824815 on Build GRCh38
4872271	c.991G>A	p.G331S	Chr.9: 127824800-127824800 on Build GRCh38
280798	c.852G>T	p.E284D	Chr.9: 127824939-127824939 on Build GRCh38
4875668	c.862C>T	p.R288C	Chr.9: 127824929-127824929 on Build GRCh38
296837	c.857delA	p.N286fs*73	Chr.9: 127824934-127824934 on Build GRCh38
3326135	c.958G>A	p.A320T	Chr.9: 127824833-127824833 on Build GRCh38
4899387	c.898C>T	p.L300L	Chr.9: 127824893-127824893 on Build GRCh38
6880832	c.897C>T	p.L299L	Chr.9: 127824894-127824894 on Build GRCh38
6880831	c.897C>T	p.L299L	Chr.9: 127824894-127824894 on Build GRCh38
1105420	c.862C>T	p.R288C	Chr.9: 127824929-127824929 on Build GRCh38
1105419	c.991G>A	p.G331S	Chr.9: 127824800-127824800 on Build GRCh38
4680968	c.892G>A	p.G298S	Chr.9: 127824899-127824899 on Build GRCh38
6273937	c.918C>A	p.L306L	Chr.9: 127824873-127824873 on Build GRCh38
6273938	c.918C>A	p.L306L	Chr.9: 127824873-127824873 on Build GRCh38
3654516	c.898C>T	p.L300L	Chr.9: 127824893-127824893 on Build GRCh38
6286791	c.916C>A	p.L306I	Chr.9: 127824875-127824875 on Build GRCh38
6286790	c.916C>A	p.L306I	Chr.9: 127824875-127824875 on Build GRCh38
5063629	c.908C>T	p.A303V	Chr.9: 127824883-127824883 on Build GRCh38
4680967	c.892G>A	p.G298S	Chr.9: 127824899-127824899 on Build GRCh38

SNP Detail

SNP ID	Chromosome Location
rs202107925	Chr.9: 127824781-127824782 on Build GRCh38
rs372045549	Chr.9: 127824941-127824941 on Build GRCh38
rs760838140	Chr.9: 127824797-127824797 on Build GRCh38
rs779815395	Chr.9: 127824871-127824871 on Build GRCh38
rs767171893	Chr.9: 127824849-127824849 on Build GRCh38
rs772189115	Chr.9: 127824770-127824770 on Build GRCh38
rs140155568	Chr.9: 127824891-127824891 on Build GRCh38
rs779719811	Chr.9: 127824749-127824749 on Build GRCh38
rs763508329	Chr.9: 127824848-127824848 on Build GRCh38
rs753429934	Chr.9: 127824880-127824880 on Build GRCh38
rs748047617	Chr.9: 127824768-127824768 on Build GRCh38
rs746042971	Chr.9: 127824920-127824920 on Build GRCh38
rs201998874	Chr.9: 127824788-127824788 on Build GRCh38
rs757759158	Chr.9: 127824761-127824762 on Build GRCh38
rs936501288	Chr.9: 127824762-127824762 on Build GRCh38
rs146089714	Chr.9: 127824839-127824839 on Build GRCh38
rs12042	Chr.9: 127824907-127824907 on Build GRCh38
rs749057017	Chr.9: 127824763-127824763 on Build GRCh38
rs1055006130	Chr.9: 127824793-127824793 on Build GRCh38
rs758291477	Chr.9: 127824886-127824886 on Build GRCh38
rs765688576	Chr.9: 127824826-127824826 on Build GRCh38
rs1004598458	Chr.9: 127824965-127824965 on Build GRCh38
rs200525684	Chr.9: 127824773-127824773 on Build GRCh38
rs149590262	Chr.9: 127824837-127824837 on Build GRCh38
rs768343537	Chr.9: 127824777-127824778 on Build GRCh38
rs886042916	Chr.9: 127824910-127824911 on Build GRCh38
rs200306464	Chr.9: 127824882-127824882 on Build GRCh38
rs1042205396	Chr.9: 127824738-127824739 on Build GRCh38
rs749888615	Chr.9: 127824856-127824856 on Build GRCh38
rs12002508	Chr.9: 127824742-127824742 on Build GRCh38
rs936559200	Chr.9: 127824745-127824745 on Build GRCh38
rs747571584	Chr.9: 127824762-127824782 on Build GRCh38
rs774709924	Chr.9: 127824952-127824952 on Build GRCh38
rs770328302	Chr.9: 127824928-127824928 on Build GRCh38
rs776975683	Chr.9: 127824901-127824901 on Build GRCh38
rs775959910	Chr.9: 127824929-127824929 on Build GRCh38
rs942465585	Chr.9: 127824825-127824825 on Build GRCh38
rs777825692	Chr.9: 127824758-127824759 on Build GRCh38
rs121918400	Chr.9: 127824960-127824960 on Build GRCh38
rs773978749	Chr.9: 127824810-127824810 on Build GRCh38
rs776872127	Chr.9: 127824816-127824816 on Build GRCh38
rs758406250	Chr.9: 127824757-127824758 on Build GRCh38
rs754842280	Chr.9: 127824881-127824881 on Build GRCh38
rs202139348	Chr.9: 127824811-127824811 on Build GRCh38
rs755739283	Chr.9: 127824858-127824858 on Build GRCh38
rs34863332	Chr.9: 127824787-127824788 on Build GRCh38
rs781443671	Chr.9: 127824763-127824764 on Build GRCh38
rs199707473	Chr.9: 127824779-127824780 on Build GRCh38
rs10760504	Chr.9: 127824782-127824782 on Build GRCh38
rs989173013	Chr.9: 127824774-127824774 on Build GRCh38
rs748105234	Chr.9: 127824884-127824884 on Build GRCh38
rs764640510	Chr.9: 127824950-127824950 on Build GRCh38
rs760001916	Chr.9: 127824817-127824817 on Build GRCh38
rs770899669	Chr.9: 127824900-127824900 on Build GRCh38
rs148063362	Chr.9: 127824773-127824774 on Build GRCh38
rs546536085	Chr.9: 127824764-127824764 on Build GRCh38
rs369202854	Chr.9: 127824801-127824801 on Build GRCh38

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