Product Details

SNP ID
rs61754118
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:214728798 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGATAATTACACAAATCTTCATAGA[C/T]GATATACTGTGTGCAGAAGCGCTGA
Phenotype
MIM: 601593
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
BARD1 PubMed Links

Gene Details

Gene
BARD1
Gene Name
BRCA1 associated RING domain 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000465.3 815 Missense Mutation ATC,GTC I738V NP_000456.2
NM_001282543.1 815 Missense Mutation ATC,GTC I719V NP_001269472.1
NM_001282545.1 815 Missense Mutation ATC,GTC I287V NP_001269474.1
NM_001282548.1 815 Missense Mutation ATC,GTC I268V NP_001269477.1
NM_001282549.1 815 Missense Mutation ATC,GTC I225V NP_001269478.1
XM_017004613.1 815 Missense Mutation ATC,GTC I771V XP_016860102.1
XM_017004614.1 815 Intron XP_016860103.1

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