Product Details

SNP ID
rs80356829
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:43045738 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGGTGTCCAGCTCCTGGCACTGGTA[G/A]AGTGCTACACTGTCCAACACCCACT
Phenotype
MIM: 113705
Polymorphism
G/A, Transition substitution
Allele Nomenclature
Literature Links
BRCA1 PubMed Links

Gene Details

Gene
BRCA1
Gene Name
BRCA1, DNA repair associated
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_007294.3 5827 Silent Mutation CTC,CTT L1844L NP_009225.1
NM_007297.3 5827 Silent Mutation CTC,CTT L1797L NP_009228.2
NM_007298.3 5827 Silent Mutation CTC,CTT L740L NP_009229.2
NM_007299.3 5827 UTR 3 NP_009230.2
NM_007300.3 5827 Silent Mutation CTC,CTT L1865L NP_009231.2

View Full Product Details