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TGGGAAGACAGCAGCGTTTGTCCTT[C/T]CCATCTTGCAGAAGCTGTCTGAGGA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 606942 MIM: 604800 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
COPE 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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COPE - coatomer protein complex subunit epsilon | ||||||
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There are no transcripts associated with this gene. |
DDX49 - DEAD-box helicase 49 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_019070.4 | 242 | Missense Mutation | CCC,TCC | P,S 59 | NP_061943.2 | |
XM_011528083.1 | 242 | UTR 5 | XP_011526385.1 | |||
XM_011528084.2 | 242 | Intron | XP_011526386.1 |
HOMER3 - homer scaffolding protein 3 | ||||||
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There are no transcripts associated with this gene. |