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ACACACTTAATGCCTGGAAACAAAA[A/T]CTGAACAAAGTGAAAAACAGCCTTT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 612328 MIM: 609641 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CCDC73 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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CCDC73 - coiled-coil domain containing 73 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001008391.3 | 805 | UTR 3 | NP_001008392.2 | |||
XM_011520139.2 | 805 | UTR 3 | XP_011518441.1 |
EIF3M - eukaryotic translation initiation factor 3 subunit M | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001307929.1 | 805 | Silent Mutation | AAA,AAT | K,N 228 | NP_001294858.1 | |
NM_006360.5 | 805 | Silent Mutation | AAA,AAT | K,N 360 | NP_006351.2 | |
XM_011519840.2 | 805 | Missense Mutation | AAA,AAT | K,N 297 | XP_011518142.1 |