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GTCCTGCTGTGCCGCAGACAGCTCT[C/T]GAGGATGTAAAATTGCTGGTACAAC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
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Literature Links: |
C12orf56 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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C12orf56 - chromosome 12 open reading frame 56 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001099676.2 | 1216 | Missense Mutation | AAG,GAG | K,E 406 | NP_001093146.1 | |
NM_001170633.1 | 1216 | Missense Mutation | AAG,GAG | K,E 566 | NP_001164104.1 | |
XM_017018770.1 | 1216 | Intron | XP_016874259.1 |