Product Details

SNP ID
hCV27994938
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:51913209 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGGTGCACAGTAGTGCTGGTGCGG[G/T]AGGAGGGGAGGCACCCCCAGGAACA
Phenotype
MIM: 601284
Polymorphism
G/T, Transversion 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_000020.2 318 Nonsense Mutation GAG,TAG E58* NP_000011.2
NM_001077401.1 318 Nonsense Mutation GAG,TAG E58* NP_001070869.1

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