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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