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AAACACTTGTTCATTTCCTGCTCCT[A/C]TTTGAGCTCGTTGGTGAGTTTGGCC
Species: |
Human | |||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604986 | |||||||||||||||||||||||
Literature Links: |
BRAP PubMed Links | |||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
---|---|---|---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU)
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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 |
BRAP - BRCA1 associated protein | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_006768.4 | 1460 | Nonsense Mutation | GAG,TAG | E,* 489 | NP_006759.3 | |
XM_005253944.4 | 1460 | Nonsense Mutation | GAG,TAG | E,* 530 | XP_005254001.1 | |
XM_011538789.2 | 1460 | Nonsense Mutation | GAG,TAG | E,* 202 | XP_011537091.1 | |
XM_017019992.1 | 1460 | Nonsense Mutation | GAG,TAG | E,* 435 | XP_016875481.1 | |
XM_017019993.1 | 1460 | Nonsense Mutation | GAG,TAG | E,* 340 | XP_016875482.1 | |
XM_017019994.1 | 1460 | Nonsense Mutation | GAG,TAG | E,* 340 | XP_016875483.1 | |
XM_017019995.1 | 1460 | Nonsense Mutation | GAG,TAG | E,* 340 | XP_016875484.1 |