Product Details

SNP ID
rs199652672
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:51913164 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CACGTGTGAGAGCCCACATTGCAAG[A/G]GGCCTACCTGCCGGGGGGCCTGGTG
Phenotype
MIM: 601284
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
ACVRL1 PubMed Links

Gene Details

Gene
ACVRL1
Gene Name
activin A receptor like type 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000020.2 273 Missense Mutation AGG,GGG R43G NP_000011.2
NM_001077401.1 273 Missense Mutation AGG,GGG R43G NP_001070869.1
XM_005269235.2 273 Missense Mutation AGG,GGG R43G XP_005269292.1
XM_011539008.1 273 Missense Mutation AGG,GGG R57G XP_011537310.1

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