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CCTGCTTGCTTCTTCTTGGATTTGC[C/T]ATCCCCCTTCACACCCAGTAGTGGA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
12 submissions
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Phenotype: |
MIM: 600697 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
RBBP5 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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RBBP5 - RB binding protein 5, histone lysine methyltransferase complex subunit | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001193272.1 | 1576 | Missense Mutation | AGC,GGC | S,G 477 | NP_001180201.1 | |
NM_001193273.1 | 1576 | Missense Mutation | AGC,GGC | S,G 350 | NP_001180202.1 | |
NM_005057.3 | 1576 | Missense Mutation | AGC,GGC | S,G 477 | NP_005048.2 | |
XM_011509833.2 | 1576 | Missense Mutation | AGC,GGC | S,G 477 | XP_011508135.1 |