Product Details

Primer Sequences

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Primer Chromosome Location

Chr.12: 51913068-51913301 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

ACVRL1

Entrez Gene ID

94

Gene Name

activin A receptor like type 1

Gene Aliases

ACVRLK1, ALK-1, ALK1, HHT, HHT2, ORW2, SKR3, TSR-I

UniGene

Hs.591026

Gene Chromosome Location

Chr.12: 51906913-51923361 on Build GRCh38

Transcripts

NM_000020.2 NM_001077401.1 XM_005269235.2 XM_011539008.1

Cosmic Detail

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Cosmic ID	Mutation	AA	Transcript Location
6418904	c.163T>C	p.C55R	Chr.12: 51913158-51913158 on Build GRCh38
7423788	c.190T>A	p.W64R	Chr.12: 51913185-51913185 on Build GRCh38
3871832	c.114G>A	p.V38V	Chr.12: 51913109-51913109 on Build GRCh38
6403887	c.247T>C	p.C83R	Chr.12: 51913242-51913242 on Build GRCh38
5780404	c.122C>G	p.S41C	Chr.12: 51913117-51913117 on Build GRCh38
1362415	c.139C>T	p.R47W	Chr.12: 51913176-51913176 on Build GRCh38
4645139	c.149G>A	p.C50Y	Chr.12: 51913144-51913144 on Build GRCh38
48222	c.146C>T	p.A49V	Chr.12: 51913183-51913183 on Build GRCh38
337345	c.141G>T	p.R47R	Chr.12: 51913178-51913178 on Build GRCh38
3667172	c.130C>T	p.P44S	Chr.12: 51913125-51913125 on Build GRCh38
5448519	c.281G>A	p.R94H	Chr.12: 51913276-51913276 on Build GRCh38
4622664	c.208G>A	p.G70R	Chr.12: 51913245-51913245 on Build GRCh38
6314072	c.210G>T	p.V70V	Chr.12: 51913205-51913205 on Build GRCh38
5369357	c.295G>A	p.V99I	Chr.12: 51913290-51913290 on Build GRCh38
4575494	c.246C>T	p.T82T	Chr.12: 51913283-51913283 on Build GRCh38
2009962	c.186delC	p.Q64fs*58	Chr.12: 51913223-51913223 on Build GRCh38
3738065	c.212G>A	p.R71Q	Chr.12: 51913207-51913207 on Build GRCh38
3738066	c.170G>A	p.R57Q	Chr.12: 51913207-51913207 on Build GRCh38
5780405	c.80C>G	p.S27C	Chr.12: 51913117-51913117 on Build GRCh38
4659227	c.146C>G	p.A49G	Chr.12: 51913183-51913183 on Build GRCh38
4475571	c.241C>T	p.R81W	Chr.12: 51913236-51913236 on Build GRCh38
5448520	c.239G>A	p.R80H	Chr.12: 51913276-51913276 on Build GRCh38
6415288	c.131C>A	p.P44H	Chr.12: 51913168-51913168 on Build GRCh38
7423787	c.148T>A	p.W50R	Chr.12: 51913185-51913185 on Build GRCh38
5141033	c.183G>T	p.R61R	Chr.12: 51913178-51913178 on Build GRCh38
1747057	c.207C>T	p.C69C	Chr.12: 51913244-51913244 on Build GRCh38
3462104	c.104G>A	p.G35E	Chr.12: 51913099-51913099 on Build GRCh38
694251	c.104C>A	p.T35K	Chr.12: 51913141-51913141 on Build GRCh38
3462105	c.62G>A	p.G21E	Chr.12: 51913099-51913099 on Build GRCh38
5956082	c.104-1G>A	p.?	Chr.12: 51913098-51913098 on Build GRCh38
5369358	c.253G>A	p.V85I	Chr.12: 51913290-51913290 on Build GRCh38
5077244	c.74A>G	p.K25R	Chr.12: 51913111-51913111 on Build GRCh38
6415287	c.173C>A	p.P58H	Chr.12: 51913168-51913168 on Build GRCh38
4575493	c.288C>T	p.T96T	Chr.12: 51913283-51913283 on Build GRCh38
6072722	c.134C>A	p.T45N	Chr.12: 51913171-51913171 on Build GRCh38
3871833	c.72G>A	p.V24V	Chr.12: 51913109-51913109 on Build GRCh38
3931654	c.249C>T	p.C83C	Chr.12: 51913244-51913244 on Build GRCh38
1188496	c.140G>A	p.R47Q	Chr.12: 51913177-51913177 on Build GRCh38
5633278	c.242G>C	p.R81P	Chr.12: 51913237-51913237 on Build GRCh38
4659226	c.188C>G	p.A63G	Chr.12: 51913183-51913183 on Build GRCh38
4622663	c.250G>A	p.G84R	Chr.12: 51913245-51913245 on Build GRCh38
3667173	c.88C>T	p.P30S	Chr.12: 51913125-51913125 on Build GRCh38
6418905	c.121T>C	p.C41R	Chr.12: 51913158-51913158 on Build GRCh38
5956083	c.62-1G>A	p.?	Chr.12: 51913098-51913098 on Build GRCh38
4645140	c.107G>A	p.C36Y	Chr.12: 51913144-51913144 on Build GRCh38
6314073	c.168G>T	p.V56V	Chr.12: 51913205-51913205 on Build GRCh38
6403888	c.205T>C	p.C69R	Chr.12: 51913242-51913242 on Build GRCh38
4334482	c.228delC	p.Q78fs*58	Chr.12: 51913223-51913223 on Build GRCh38
5633279	c.200G>C	p.R67P	Chr.12: 51913237-51913237 on Build GRCh38
4475572	c.199C>T	p.R67W	Chr.12: 51913236-51913236 on Build GRCh38
5158891	c.181C>T	p.R61W	Chr.12: 51913176-51913176 on Build GRCh38
3462106	c.168G>A	p.K56K	Chr.12: 51913163-51913163 on Build GRCh38
3462107	c.126G>A	p.K42K	Chr.12: 51913163-51913163 on Build GRCh38
6072721	c.176C>A	p.T59N	Chr.12: 51913171-51913171 on Build GRCh38

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SNP Detail

SNP ID	Chromosome Location
rs773197155	Chr.12: 51913197-51913197 on Build GRCh38
rs767447976	Chr.12: 51913120-51913120 on Build GRCh38
rs765444955	Chr.12: 51913207-51913207 on Build GRCh38
rs765215717	Chr.12: 51913126-51913126 on Build GRCh38
rs376537508	Chr.12: 51913141-51913141 on Build GRCh38
rs777633148	Chr.12: 51913259-51913259 on Build GRCh38
rs867439593	Chr.12: 51913186-51913186 on Build GRCh38
rs267606633	Chr.12: 51913182-51913182 on Build GRCh38
rs199542304	Chr.12: 51913114-51913114 on Build GRCh38
rs199652672	Chr.12: 51913164-51913164 on Build GRCh38
rs775126098	Chr.12: 51913098-51913098 on Build GRCh38
rs139486404	Chr.12: 51913124-51913124 on Build GRCh38
rs121909285	Chr.12: 51913187-51913187 on Build GRCh38
rs761650726	Chr.12: 51913119-51913119 on Build GRCh38
rs748925030	Chr.12: 51913278-51913278 on Build GRCh38
rs387906392	Chr.12: 51913180-51913184 on Build GRCh38
rs863223409	Chr.12: 51913189-51913189 on Build GRCh38
rs943040923	Chr.12: 51913228-51913228 on Build GRCh38
rs571079237	Chr.12: 51913194-51913194 on Build GRCh38
rs750720985	Chr.12: 51913260-51913260 on Build GRCh38
rs267606632	Chr.12: 51913180-51913180 on Build GRCh38
rs863223415	Chr.12: 51913182-51913183 on Build GRCh38
rs757819334	Chr.12: 51913239-51913239 on Build GRCh38
rs779706773	Chr.12: 51913276-51913276 on Build GRCh38
rs774167132	Chr.12: 51913115-51913115 on Build GRCh38
rs944879931	Chr.12: 51913224-51913224 on Build GRCh38
rs762796409	Chr.12: 51913106-51913106 on Build GRCh38
rs769164568	Chr.12: 51913085-51913085 on Build GRCh38
rs56080682	Chr.12: 51913244-51913244 on Build GRCh38
rs764124308	Chr.12: 51913226-51913226 on Build GRCh38
rs775599560	Chr.12: 51913209-51913209 on Build GRCh38
rs759670132	Chr.12: 51913206-51913206 on Build GRCh38
rs763053615	Chr.12: 51913225-51913225 on Build GRCh38
rs745507845	Chr.12: 51913157-51913157 on Build GRCh38
rs757588086	Chr.12: 51913142-51913142 on Build GRCh38
rs781586192	Chr.12: 51913148-51913148 on Build GRCh38
rs373401329	Chr.12: 51913127-51913127 on Build GRCh38
rs756447582	Chr.12: 51913275-51913275 on Build GRCh38
rs752040748	Chr.12: 51913235-51913235 on Build GRCh38
rs748772777	Chr.12: 51913171-51913171 on Build GRCh38
rs779576094	Chr.12: 51913167-51913167 on Build GRCh38
rs764616695	Chr.12: 51913129-51913129 on Build GRCh38
rs768072967	Chr.12: 51913176-51913176 on Build GRCh38
rs149664056	Chr.12: 51913125-51913125 on Build GRCh38
rs863223414	Chr.12: 51913237-51913237 on Build GRCh38
rs774389618	Chr.12: 51913177-51913177 on Build GRCh38
rs878985292	Chr.12: 51913218-51913218 on Build GRCh38

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