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TGGCACACCTGAAGTAGAAGCAGAG[A/T]GTTCTTCCTGTTAAGAAAACAAAGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 606086 MIM: 606134 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
EIF5B 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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EIF5B - eukaryotic translation initiation factor 5B | ||||||
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There are no transcripts associated with this gene. |
REV1 - REV1, DNA directed polymerase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001037872.2 | 3003 | Missense Mutation | CAC,CTC | H,L 1130 | NP_001032961.1 | |
NM_001321454.1 | 3003 | Missense Mutation | CAC,CTC | H,L 1167 | NP_001308383.1 | |
NM_001321455.1 | 3003 | Missense Mutation | CAC,CTC | H,L 1060 | NP_001308384.1 | |
NM_001321458.1 | 3003 | Missense Mutation | CAC,CTC | H,L 641 | NP_001308387.1 | |
NM_001321459.1 | 3003 | Missense Mutation | CAC,CTC | H,L 608 | NP_001308388.1 | |
NM_001321460.1 | 3003 | Missense Mutation | CAC,CTC | H,L 608 | NP_001308389.1 | |
NM_016316.3 | 3003 | Missense Mutation | CAC,CTC | H,L 1131 | NP_057400.1 | |
XM_011511341.2 | 3003 | Missense Mutation | CAC,CTC | H,L 641 | XP_011509643.1 | |
XM_017004309.1 | 3003 | Missense Mutation | CAC,CTC | H,L 1177 | XP_016859798.1 | |
XM_017004310.1 | 3003 | Missense Mutation | CAC,CTC | H,L 1167 | XP_016859799.1 | |
XM_017004311.1 | 3003 | Missense Mutation | CAC,CTC | H,L 1167 | XP_016859800.1 | |
XM_017004312.1 | 3003 | Missense Mutation | CAC,CTC | H,L 1166 | XP_016859801.1 | |
XM_017004313.1 | 3003 | Missense Mutation | CAC,CTC | H,L 1238 | XP_016859802.1 | |
XM_017004314.1 | 3003 | Missense Mutation | CAC,CTC | H,L 641 | XP_016859803.1 | |
XM_017004315.1 | 3003 | Missense Mutation | CAC,CTC | H,L 638 | XP_016859804.1 |