Product Details

SNP ID
rs143948837
Assay Type
Functionally tested
NCBI dbSNP Submissions
5
Location
Chr.1:229433008 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGACCTGGTGTCGGGGGCGGCCCAC[G/T]ATGGACGGGAACACGGCCCTAGGGG
Phenotype
MIM: 102610 MIM: 607613
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
ACTA1 PubMed Links

Gene Details

Gene
ACTA1
Gene Name
actin, alpha 1, skeletal muscle
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001100.3 213 Silent Mutation NP_001091.1
Gene
NUP133
Gene Name
nucleoporin 133
There are no transcripts associated with this gene.

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