Product Details

SNP ID
rs145293565
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:44809306 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGTACTTCACCAAGACCGTGTTCC[A/T]GTCGGGTCTGCCGCCGCCCCCAGCG
Phenotype
MIM: 611991
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
BRCAT54 PubMed Links

Gene Details

Gene
BRCAT54
Gene Name
breast cancer-associated transcript 54
There are no transcripts associated with this gene.

Gene
MRPS30
Gene Name
mitochondrial ribosomal protein S30
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_016640.3 382 Missense Mutation CAG,CTG Q115L NP_057724.2

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