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TTTCCACGAAGCGCTAGGGCCTTGG[C/T]AGCCTCGGCGCTACCTGCCCAGGGC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
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Literature Links: |
C2orf47 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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C2orf47 - chromosome 2 open reading frame 47 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_024520.2 | 418 | Missense Mutation | GCA,GTA | A,V 62 | NP_078796.2 | |
XM_005246852.2 | 418 | Missense Mutation | GCA,GTA | A,V 62 | XP_005246909.1 |
TYW5 - tRNA-yW synthesizing protein 5 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001039693.2 | 418 | Intron | NP_001034782.1 | |||
XM_017003310.1 | 418 | Intron | XP_016858799.1 |