Product Details

SNP ID
rs80357299
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:43045749 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCTGGCACTGGTAGAGTGCTACAC[T/G]GTCCAACACCCACTCTCGGGTCACC
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 5816 Missense Mutation AGT,CGT S1841R NP_009225.1
NM_007297.3 5816 Missense Mutation AGT,CGT S1794R NP_009228.2
NM_007298.3 5816 Missense Mutation AGT,CGT S737R NP_009229.2
NM_007299.3 5816 UTR 3 NP_009230.2
NM_007300.3 5816 Missense Mutation AGT,CGT S1862R NP_009231.2

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