Product Details

Primer Sequences
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Primer Chromosome Location
Chr.12: 51915196-51915421 on Build GRCh38
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

Cosmic ID Mutation AA Transcript Location
6593285 c.847G>A p.G283S Chr.12: 51915299-51915299 on Build GRCh38
291102 c.932C>T p.A311V Chr.12: 51915384-51915384 on Build GRCh38
4561398 c.925G>A p.E309K Chr.12: 51915335-51915335 on Build GRCh38
3968271 c.841C>T p.R281C Chr.12: 51915251-51915251 on Build GRCh38
361681 c.828C>T p.I276I Chr.12: 51915280-51915280 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs1042298546 Chr.12: 51915362-51915362 on Build GRCh38
rs779485996 Chr.12: 51915293-51915293 on Build GRCh38
rs145300204 Chr.12: 51915400-51915400 on Build GRCh38
rs543884349 Chr.12: 51915265-51915265 on Build GRCh38
rs863223411 Chr.12: 51915372-51915372 on Build GRCh38
rs1057256890 Chr.12: 51915323-51915323 on Build GRCh38
rs201489901 Chr.12: 51915379-51915379 on Build GRCh38
rs953243321 Chr.12: 51915278-51915278 on Build GRCh38
rs769915007 Chr.12: 51915346-51915346 on Build GRCh38
rs941941536 Chr.12: 51915283-51915283 on Build GRCh38
rs148640185 Chr.12: 51915251-51915251 on Build GRCh38
rs780860797 Chr.12: 51915275-51915275 on Build GRCh38
rs139078976 Chr.12: 51915331-51915331 on Build GRCh38
rs55802125 Chr.12: 51915269-51915269 on Build GRCh38
rs370666061 Chr.12: 51915349-51915349 on Build GRCh38
rs768643771 Chr.12: 51915303-51915303 on Build GRCh38
rs930393044 Chr.12: 51915281-51915281 on Build GRCh38
rs755786527 Chr.12: 51915384-51915384 on Build GRCh38
rs146877800 Chr.12: 51915341-51915341 on Build GRCh38
rs542810348 Chr.12: 51915310-51915310 on Build GRCh38
rs146188863 Chr.12: 51915292-51915292 on Build GRCh38
rs377201195 Chr.12: 51915252-51915252 on Build GRCh38
rs200320649 Chr.12: 51915238-51915238 on Build GRCh38
rs574165873 Chr.12: 51915298-51915298 on Build GRCh38
rs200993884 Chr.12: 51915380-51915380 on Build GRCh38
rs776879586 Chr.12: 51915340-51915340 on Build GRCh38
rs139380315 Chr.12: 51915342-51915342 on Build GRCh38
rs757645341 Chr.12: 51915274-51915274 on Build GRCh38
rs1036387802 Chr.12: 51915286-51915286 on Build GRCh38
rs986336353 Chr.12: 51915280-51915280 on Build GRCh38
rs763034992 Chr.12: 51915354-51915354 on Build GRCh38
rs150038846 Chr.12: 51915369-51915369 on Build GRCh38
rs750085854 Chr.12: 51915282-51915282 on Build GRCh38
rs372753267 Chr.12: 51915219-51915219 on Build GRCh38
rs764535961 Chr.12: 51915361-51915361 on Build GRCh38
rs911791104 Chr.12: 51915232-51915232 on Build GRCh38
rs779758131 Chr.12: 51915385-51915385 on Build GRCh38
rs143930271 Chr.12: 51915332-51915332 on Build GRCh38
rs565262730 Chr.12: 51915383-51915383 on Build GRCh38

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