Product Details

SNP ID

rs201489517

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:88935287 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATCGTATTCCTGTTTGCTGATCCAC[A/G]TCTGCTGGAAGGTGGACAGAGAGGC

Phenotype

MIM: 102620

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ACTA2 PubMed Links

Gene Details

Gene

ACTA2

Gene Name

actin, alpha 2, smooth muscle, aorta

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001141945.2	1552	Missense Mutation	ACG,ATG	T357M	NP_001135417.1
NM_001320855.1	1552	Missense Mutation	ACG,ATG	T357M	NP_001307784.1
NM_001613.2	1552	Missense Mutation			NP_001604.1

Gene

ACTA2-AS1

Gene Name

ACTA2 antisense RNA 1

There are no transcripts associated with this gene.

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