Product Details

SNP ID
rs80356873
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:43045734 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGGTAGGTGTCCAGCTCCTGGCACT[G/A]GTAGAGTGCTACACTGTCCAACACC
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 5831 Nonsense Mutation CAG,TAG Q1846* NP_009225.1
NM_007297.3 5831 Nonsense Mutation CAG,TAG Q1799* NP_009228.2
NM_007298.3 5831 Nonsense Mutation CAG,TAG Q742* NP_009229.2
NM_007299.3 5831 UTR 3 NP_009230.2
NM_007300.3 5831 Nonsense Mutation CAG,TAG Q1867* NP_009231.2

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