Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GGGGGATCTGGGGTATCAGGTAGGT[T/G]TCCAGCTCCTGGCACTGGTAGAGTG
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 |
---|---|---|
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 |
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 | 5848 | Missense Mutation | GAA,GAC | E,D 1851 | NP_009225.1 | |
NM_007297.3 | 5848 | Missense Mutation | GAA,GAC | E,D 1804 | NP_009228.2 | |
NM_007298.3 | 5848 | Missense Mutation | GAA,GAC | E,D 747 | NP_009229.2 | |
NM_007299.3 | 5848 | UTR 3 | NP_009230.2 | |||
NM_007300.3 | 5848 | Missense Mutation | GAA,GAC | E,D 1872 | NP_009231.2 |