Product Details

Primer Sequences

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Primer Chromosome Location

Chr.2: 157760705-157760968 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

ACVR1

Entrez Gene ID

90

Gene Name

activin A receptor type 1

Gene Aliases

ACTRI, ACVR1A, ACVRLK2, ALK2, FOP, SKR1, TSRI

UniGene

Hs.470316

Gene Chromosome Location

Chr.2: 157736446-157875880 on Build GRCh38

Transcripts

NM_001105.4 NM_001111067.2 XM_005246939.3 XM_005246940.3 XM_006712825.3 XM_011512106.2 XM_011512107.2 XM_011512108.2

Cosmic Detail

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Cosmic ID	Mutation	AA	Transcript Location
6934550	c.1217C>G	p.A406G	Chr.2: 157760927-157760927 on Build GRCh38
6982559	c.1197T>G	p.Y399*	Chr.2: 157760947-157760947 on Build GRCh38
359549	c.1228G>A	p.V410I	Chr.2: 157760916-157760916 on Build GRCh38
4780123	c.1262A>G	p.N421S	Chr.2: 157760882-157760882 on Build GRCh38
3895035	c.1218C>A	p.A406A	Chr.2: 157760926-157760926 on Build GRCh38
5860335	c.1216G>A	p.A406T	Chr.2: 157760928-157760928 on Build GRCh38
1400286	c.1188C>T	p.F396F	Chr.2: 157760956-157760956 on Build GRCh38
1613544	c.1264+7A>G	p.?	Chr.2: 157760873-157760873 on Build GRCh38
3961333	c.1188C>A	p.F396L	Chr.2: 157760956-157760956 on Build GRCh38
6010329	c.1245C>A	p.A415A	Chr.2: 157760899-157760899 on Build GRCh38
6931630	c.1237G>A	p.E413K	Chr.2: 157760907-157760907 on Build GRCh38
6981005	c.1216G>T	p.A406S	Chr.2: 157760928-157760928 on Build GRCh38
4649664	c.1204G>A	p.V402I	Chr.2: 157760940-157760940 on Build GRCh38
5025730	c.1257G>A	p.V419V	Chr.2: 157760887-157760887 on Build GRCh38

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SNP Detail

SNP ID	Chromosome Location
rs948813223	Chr.2: 157760850-157760850 on Build GRCh38
rs769927793	Chr.2: 157760938-157760938 on Build GRCh38
rs778580243	Chr.2: 157760857-157760857 on Build GRCh38
rs199846664	Chr.2: 157760808-157760808 on Build GRCh38
rs907292781	Chr.2: 157760855-157760855 on Build GRCh38
rs893086110	Chr.2: 157760836-157760836 on Build GRCh38
rs73022045	Chr.2: 157760769-157760769 on Build GRCh38
rs549634108	Chr.2: 157760891-157760891 on Build GRCh38
rs769089859	Chr.2: 157760882-157760882 on Build GRCh38
rs374572831	Chr.2: 157760832-157760832 on Build GRCh38
rs533209471	Chr.2: 157760764-157760764 on Build GRCh38
rs200059515	Chr.2: 157760872-157760872 on Build GRCh38
rs773531681	Chr.2: 157760940-157760940 on Build GRCh38
rs923396216	Chr.2: 157760754-157760754 on Build GRCh38
rs745488328	Chr.2: 157760861-157760861 on Build GRCh38
rs1035254243	Chr.2: 157760889-157760889 on Build GRCh38
rs897756393	Chr.2: 157760902-157760902 on Build GRCh38
rs749693539	Chr.2: 157760861-157760862 on Build GRCh38
rs748503002	Chr.2: 157760926-157760926 on Build GRCh38
rs934879028	Chr.2: 157760789-157760789 on Build GRCh38
rs779539622	Chr.2: 157760865-157760865 on Build GRCh38
rs753602857	Chr.2: 157760845-157760845 on Build GRCh38
rs566851421	Chr.2: 157760799-157760799 on Build GRCh38
rs371334077	Chr.2: 157760853-157760853 on Build GRCh38
rs747575845	Chr.2: 157760867-157760867 on Build GRCh38
rs924917553	Chr.2: 157760773-157760773 on Build GRCh38
rs775370136	Chr.2: 157760895-157760895 on Build GRCh38
rs1044491278	Chr.2: 157760852-157760852 on Build GRCh38
rs773029527	Chr.2: 157760774-157760774 on Build GRCh38
rs368553363	Chr.2: 157760838-157760838 on Build GRCh38
rs771800352	Chr.2: 157760765-157760765 on Build GRCh38
rs1054478920	Chr.2: 157760801-157760801 on Build GRCh38
rs1040924309	Chr.2: 157760770-157760770 on Build GRCh38

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