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AGTCGGCGAAGCTCGACAGTGTCCC[C/G]AGCGCCAGAGAGGAGGCCGGCGGAG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 606286 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
DDX43 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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DDX43 - DEAD-box helicase 43 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_018665.2 | 418 | Missense Mutation | CCA,CGA | P,R 25 | NP_061135.2 | |
XM_011535926.1 | 418 | Missense Mutation | CCA,CGA | P,R 25 | XP_011534228.1 | |
XM_011535927.2 | 418 | Intron | XP_011534229.1 | |||
XM_011535928.2 | 418 | UTR 5 | XP_011534230.1 | |||
XM_017011003.1 | 418 | UTR 5 | XP_016866492.1 |
OOEP-AS1 - OOEP antisense RNA 1 | ||||||
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There are no transcripts associated with this gene. |