Product Details

Primer Sequences: Log in to view
Primer Chromosome Location: Chr.9: 127818123-127818376 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 NR_136302.1

Gene Symbol: LOC102723566
Entrez Gene ID: 102723566
Gene Name: uncharacterized LOC102723566
Gene Aliases: -
UniGene
Gene Chromosome Location: Chr.9: 127816066-127822520 on Build GRCh38
Transcripts: NM_000118.3 NM_001114753.2 NM_001278138.1 NR_136302.1

Cosmic Detail

Cosmic ID	Mutation	AA	Transcript Location
6337502	c.1583C>T	p.P528L	Chr.9: 127818223-127818223 on Build GRCh38
5422282	c.1528C>T	p.R510W	Chr.9: 127818278-127818278 on Build GRCh38
5422281	c.1528C>T	p.R510W	Chr.9: 127818278-127818278 on Build GRCh38
6337503	c.1583C>T	p.P528L	Chr.9: 127818223-127818223 on Build GRCh38
7418444	c.1466A>G	p.Q489R	Chr.9: 127818340-127818340 on Build GRCh38
7418445	c.1466A>G	p.Q489R	Chr.9: 127818340-127818340 on Build GRCh38
6454524	c.1649C>T	p.T550M	Chr.9: 127818157-127818157 on Build GRCh38
4007055	c.1645T>A	p.C549S	Chr.9: 127818161-127818161 on Build GRCh38
6454523	c.1649C>T	p.T550M	Chr.9: 127818157-127818157 on Build GRCh38
4812974	c.1443A>G	p.P481P	Chr.9: 127818363-127818363 on Build GRCh38
5812200	c.1546T>A	p.C516S	Chr.9: 127818260-127818260 on Build GRCh38
5812199	c.1546T>A	p.C516S	Chr.9: 127818260-127818260 on Build GRCh38
4815125	c.1641C>T	p.L547L	Chr.9: 127818165-127818165 on Build GRCh38
6654018	c.1633G>A	p.G545S	Chr.9: 127818173-127818173 on Build GRCh38
4410529	c.1669A>T	p.T557S	Chr.9: 127818137-127818137 on Build GRCh38
6654017	c.1633G>A	p.G545S	Chr.9: 127818173-127818173 on Build GRCh38
4389993	c.1494G>A	p.G498G	Chr.9: 127818312-127818312 on Build GRCh38
4467790	c.1508C>T	p.T503I	Chr.9: 127818298-127818298 on Build GRCh38
4410528	c.1669A>T	p.T557S	Chr.9: 127818137-127818137 on Build GRCh38
6654026	c.1447G>A	p.V483I	Chr.9: 127818359-127818359 on Build GRCh38
1755948	c.1645T>A	p.C549S	Chr.9: 127818161-127818161 on Build GRCh38
6654025	c.1447G>A	p.V483I	Chr.9: 127818359-127818359 on Build GRCh38
4467789	c.1508C>T	p.T503I	Chr.9: 127818298-127818298 on Build GRCh38
455378	c.1443A>G	p.P481P	Chr.9: 127818363-127818363 on Build GRCh38
6654035	c.1545C>A	p.N515K	Chr.9: 127818261-127818261 on Build GRCh38
6654036	c.1545C>A	p.N515K	Chr.9: 127818261-127818261 on Build GRCh38
7086269	c.1616T>A	p.V539E	Chr.9: 127818190-127818190 on Build GRCh38
4680966	c.1515A>G	p.E505E	Chr.9: 127818291-127818291 on Build GRCh38
1105417	c.1660C>T	p.R554C	Chr.9: 127818146-127818146 on Build GRCh38
4680965	c.1515A>G	p.E505E	Chr.9: 127818291-127818291 on Build GRCh38
7086270	c.1616T>A	p.V539E	Chr.9: 127818190-127818190 on Build GRCh38
3382428	c.1494G>A	p.G498G	Chr.9: 127818312-127818312 on Build GRCh38
3654515	c.1641C>T	p.L547L	Chr.9: 127818165-127818165 on Build GRCh38

SNP Detail

SNP ID	Chromosome Location
rs150456852	Chr.9: 127818351-127818351 on Build GRCh38
rs748966307	Chr.9: 127818145-127818145 on Build GRCh38
rs754208447	Chr.9: 127818187-127818187 on Build GRCh38
rs929266862	Chr.9: 127818241-127818241 on Build GRCh38
rs770013214	Chr.9: 127818313-127818313 on Build GRCh38
rs766531566	Chr.9: 127818185-127818185 on Build GRCh38
rs768491175	Chr.9: 127818151-127818151 on Build GRCh38
rs780884220	Chr.9: 127818214-127818214 on Build GRCh38
rs375870845	Chr.9: 127818191-127818191 on Build GRCh38
rs144595802	Chr.9: 127818280-127818280 on Build GRCh38
rs760682477	Chr.9: 127818234-127818234 on Build GRCh38
rs765564489	Chr.9: 127818268-127818268 on Build GRCh38
rs754619120	Chr.9: 127818287-127818287 on Build GRCh38
rs532853893	Chr.9: 127818196-127818196 on Build GRCh38
rs941578347	Chr.9: 127818324-127818324 on Build GRCh38
rs910711416	Chr.9: 127818182-127818182 on Build GRCh38
rs764626017	Chr.9: 127818275-127818275 on Build GRCh38
rs774162691	Chr.9: 127818225-127818225 on Build GRCh38
rs997074986	Chr.9: 127818353-127818353 on Build GRCh38
rs775718026	Chr.9: 127818326-127818326 on Build GRCh38
rs140760635	Chr.9: 127818273-127818273 on Build GRCh38
rs200224098	Chr.9: 127818274-127818274 on Build GRCh38
rs779916731	Chr.9: 127818223-127818223 on Build GRCh38
rs777756221	Chr.9: 127818297-127818297 on Build GRCh38
rs746937879	Chr.9: 127818299-127818299 on Build GRCh38
rs747919839	Chr.9: 127818290-127818290 on Build GRCh38
rs766445175	Chr.9: 127818238-127818238 on Build GRCh38
rs116330805	Chr.9: 127818296-127818296 on Build GRCh38
rs147428654	Chr.9: 127818249-127818249 on Build GRCh38
rs199629212	Chr.9: 127818277-127818277 on Build GRCh38
rs142896669	Chr.9: 127818173-127818173 on Build GRCh38
rs755367205	Chr.9: 127818188-127818188 on Build GRCh38
rs886041325	Chr.9: 127818251-127818252 on Build GRCh38
rs201517535	Chr.9: 127818278-127818278 on Build GRCh38
rs148537759	Chr.9: 127818333-127818333 on Build GRCh38
rs759785487	Chr.9: 127818260-127818260 on Build GRCh38
rs863223541	Chr.9: 127818255-127818256 on Build GRCh38
rs771948067	Chr.9: 127818231-127818231 on Build GRCh38
rs570296266	Chr.9: 127818195-127818195 on Build GRCh38
rs189572386	Chr.9: 127818222-127818222 on Build GRCh38
rs764536505	Chr.9: 127818343-127818343 on Build GRCh38
rs372072854	Chr.9: 127818305-127818305 on Build GRCh38
rs117510900	Chr.9: 127818174-127818174 on Build GRCh38
rs554788017	Chr.9: 127818308-127818308 on Build GRCh38
rs773294798	Chr.9: 127818233-127818233 on Build GRCh38
rs115450389	Chr.9: 127818354-127818354 on Build GRCh38
rs763475207	Chr.9: 127818337-127818337 on Build GRCh38
rs979666386	Chr.9: 127818165-127818165 on Build GRCh38
rs759712732	Chr.9: 127818312-127818312 on Build GRCh38
rs372453075	Chr.9: 127818169-127818169 on Build GRCh38
rs778594104	Chr.9: 127818289-127818289 on Build GRCh38
rs369183236	Chr.9: 127818224-127818224 on Build GRCh38
rs863223538	Chr.9: 127818220-127818220 on Build GRCh38
rs753472534	Chr.9: 127818285-127818285 on Build GRCh38
rs745316066	Chr.9: 127818221-127818221 on Build GRCh38
rs372900775	Chr.9: 127818230-127818230 on Build GRCh38

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