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Species: |
Human | ||||||||||||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 600280 | ||||||||||||||||||||||||||||||||||||||||||||||||||
Literature Links: |
NUBP1 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)
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EAS
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African American - Not Available | YRI (Yoruba)
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SAS
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Chinese - Not Available | JPT (Japanese)
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AFR
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Japanese - Not Available | CHB (Han Chinese)
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EUR
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AMR
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NUBP1 - nucleotide binding protein 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001278506.1 | 123 | Missense Mutation | CCG,GCG | P,A 39 | NP_001265435.1 | |
NM_001323594.1 | 123 | Missense Mutation | CCG,GCG | P,A 39 | NP_001310523.1 | |
NM_001323595.1 | 123 | Missense Mutation | CCG,GCG | P,A 39 | NP_001310524.1 | |
NM_001323596.1 | 123 | Missense Mutation | CCG,GCG | P,A 39 | NP_001310525.1 | |
NM_001323597.1 | 123 | UTR 5 | NP_001310526.1 | |||
NM_002484.3 | 123 | Missense Mutation | CCG,GCG | P,A 39 | NP_002475.2 | |
XM_017023252.1 | 123 | Missense Mutation | CCG,GCG | P,A 39 | XP_016878741.1 |
TEKT5 - tektin 5 | ||||||
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There are no transcripts associated with this gene. |