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CAAGGCTGTACAAATCAGAACCCAG[A/G]TTTTTCCTGCTCTGAAACTGTGGAC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 612500 MIM: 607291 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
DDX52 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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DDX52 - DEAD-box helicase 52 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001291476.1 | 1432 | Missense Mutation | ACC,ATC | T,I 355 | NP_001278405.1 | |
NM_007010.4 | 1432 | Missense Mutation | ACC,ATC | T,I 463 | NP_008941.3 | |
XM_011524232.2 | 1432 | Missense Mutation | ACC,ATC | T,I 463 | XP_011522534.1 | |
XM_011524233.2 | 1432 | Missense Mutation | ACC,ATC | T,I 223 | XP_011522535.1 |
MIR378J - microRNA 378j | ||||||
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There are no transcripts associated with this gene. |
SYNRG - synergin, gamma | ||||||
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There are no transcripts associated with this gene. |