Product Details

SNP ID
rs149262370
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:214728894 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTCACGTCACTGTCTGGCTTGGGCT[C/T]TCTACTGAGGATCTGGCCCCCACCT
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_000465.3 719 Missense Mutation AAG,GAG K706E NP_000456.2
NM_001282543.1 719 Missense Mutation AAG,GAG K687E NP_001269472.1
NM_001282545.1 719 Missense Mutation AAG,GAG K255E NP_001269474.1
NM_001282548.1 719 Missense Mutation AAG,GAG K236E NP_001269477.1
NM_001282549.1 719 Missense Mutation AAG,GAG K193E NP_001269478.1
XM_017004613.1 719 Missense Mutation AAG,GAG K739E XP_016860102.1
XM_017004614.1 719 Intron XP_016860103.1

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