Product Details

SNP ID
rs80145187
Assay Type
Functionally tested
NCBI dbSNP Submissions
12
Location
Chr.1:229441000 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GACATGCCAGCAACTCCCTGTCCAA[A/C]CTCTGGCCTTTATTTAAAACCCAGA
Phenotype
MIM: 102610 MIM: 607613
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
ACTA1 PubMed Links

Gene Details

Gene
ACTA1
Gene Name
actin, alpha 1, skeletal muscle
There are no transcripts associated with this gene.

Gene
NUP133
Gene Name
nucleoporin 133
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_018230.2 Intron NP_060700.2

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