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CATGGTTGACGTTGCAAAGGCGCTT[A/T]ATCGGCCTCCAACGTGTAAGTAAAG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 601710 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
EIF5 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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EIF5 - eukaryotic translation initiation factor 5 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001969.4 | 672 | Missense Mutation | AAT,TAT | N,Y 47 | NP_001960.2 | |
NM_183004.4 | 672 | Missense Mutation | AAT,TAT | N,Y 47 | NP_892116.2 |
LOC105370687 - translation initiation factor IF-2-like | ||||||
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There are no transcripts associated with this gene. |
SNORA28 - small nucleolar RNA, H/ACA box 28 | ||||||
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There are no transcripts associated with this gene. |