Product Details

SNP ID
rs1062398
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:88935239 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAAAGTGTTTTAGAAGCATTTGCGG[G/T]GGACAATGGAAGGCCCGGCTTCATC
Phenotype
MIM: 102620
Polymorphism
G/T, Transversion 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 1600 Missense Mutation CAC,CCC H373P NP_001135417.1
NM_001320855.1 1600 Missense Mutation CAC,CCC H373P NP_001307784.1
NM_001613.2 1600 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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