Product Details

SNP ID
rs112848372
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.3:179592691 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCAAGGCAAAGAATCGTTTCCTATT[A/G]TATCTTTTATTTAGGTGCCAAGGTA
Phenotype
MIM: 604958 MIM: 611852
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
ACTL6A PubMed Links

Gene Details

Gene
ACTL6A
Gene Name
actin like 6A
There are no transcripts associated with this gene.

Gene
MRPL47
Gene Name
mitochondrial ribosomal protein L47
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_020409.2 458 Silent Mutation TAC,TAT Y194Y NP_065142.2
NM_177988.1 458 Silent Mutation TAC,TAT Y84Y NP_817125.1

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