Product Details

SNP ID
rs80357336
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:43045711 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCTGTGGGGGATCTGGGGTATCAG[T/G]TAGGTGTCCAGCTCCTGGCACTGGT
Phenotype
MIM: 113705
Polymorphism
T/G, Transversion 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 5854 Nonsense Mutation NP_009225.1
NM_007297.3 5854 Nonsense Mutation NP_009228.2
NM_007298.3 5854 Nonsense Mutation NP_009229.2
NM_007299.3 5854 UTR 3 NP_009230.2
NM_007300.3 5854 Nonsense Mutation NP_009231.2

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