Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
ATTGATGGTCTGAGTCACGTCACTG[A/T]CTGGCTTGGGCTTTCTACTGAGGAT
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 |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
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 | 732 | Missense Mutation | GAC,GTC | D,V 710 | NP_000456.2 | |
NM_001282543.1 | 732 | Missense Mutation | GAC,GTC | D,V 691 | NP_001269472.1 | |
NM_001282545.1 | 732 | Missense Mutation | GAC,GTC | D,V 259 | NP_001269474.1 | |
NM_001282548.1 | 732 | Missense Mutation | GAC,GTC | D,V 240 | NP_001269477.1 | |
NM_001282549.1 | 732 | Missense Mutation | GAC,GTC | D,V 197 | NP_001269478.1 | |
XM_017004613.1 | 732 | Missense Mutation | GAC,GTC | D,V 743 | XP_016860102.1 | |
XM_017004614.1 | 732 | Intron | XP_016860103.1 |