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GTGTGCAGAAGCGCTGATCAGAATC[A/G]GGTCTCGCATGGTATGCGACTGTAT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 601593 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
BARD1 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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BARD1 - BRCA1 associated RING domain 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000465.3 | 781 | Silent Mutation | CCC,CCT | P,P 726 | NP_000456.2 | |
NM_001282543.1 | 781 | Silent Mutation | CCC,CCT | P,P 707 | NP_001269472.1 | |
NM_001282545.1 | 781 | Silent Mutation | CCC,CCT | P,P 275 | NP_001269474.1 | |
NM_001282548.1 | 781 | Silent Mutation | CCC,CCT | P,P 256 | NP_001269477.1 | |
NM_001282549.1 | 781 | Silent Mutation | CCC,CCT | P,P 213 | NP_001269478.1 | |
XM_017004613.1 | 781 | Silent Mutation | CCC,CCT | P,P 759 | XP_016860102.1 | |
XM_017004614.1 | 781 | Intron | XP_016860103.1 |