Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GCAGTCAGTAGTGGCTGTGGGGGAT[C/A]TGGGGTATCAGGTAGGTGTCCAGCT
Species: |
Human | ||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 113705 | ||||||||||||||||||||||||||||||||
Literature Links: |
BRCA1 PubMed Links | ||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global - Not Available | Caucasian - Not Available | CEPH (CEU)
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EAS - Not Available | African American - Not Available | YRI (Yoruba)
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SAS - Not Available | Chinese - Not Available | JPT (Japanese)
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AFR - Not Available | Japanese - Not Available | CHB (Han Chinese)
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EUR - Not Available | |||||
AMR - Not Available |
BRCA1 - BRCA1, DNA repair associated | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_007294.3 | 5866 | Missense Mutation | CAA,CAC | Q,H 1857 | NP_009225.1 | |
NM_007297.3 | 5866 | Missense Mutation | CAA,CAC | Q,H 1810 | NP_009228.2 | |
NM_007298.3 | 5866 | Missense Mutation | CAA,CAC | Q,H 753 | NP_009229.2 | |
NM_007299.3 | 5866 | UTR 3 | NP_009230.2 | |||
NM_007300.3 | 5866 | Missense Mutation | CAA,CAC | Q,H 1878 | NP_009231.2 |
Set Membership: |
HapMap |