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GAGAAAAGTTTTTAGTTCCAAGGGT[C/T]GCAGCACTGGTTGTTTTTCTATACG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
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Literature Links: |
C2orf42 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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C2orf42 - chromosome 2 open reading frame 42 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_017880.1 | 2005 | Missense Mutation | CAA,CGA | Q,R 495 | NP_060350.1 | |
XM_005264389.2 | 2005 | Missense Mutation | CAA,CGA | Q,R 495 | XP_005264446.1 | |
XM_005264390.2 | 2005 | Missense Mutation | CAA,CGA | Q,R 495 | XP_005264447.1 | |
XM_005264391.2 | 2005 | Missense Mutation | CAA,CGA | Q,R 495 | XP_005264448.1 | |
XM_011532937.2 | 2005 | Missense Mutation | CAA,CGA | Q,R 495 | XP_011531239.1 | |
XM_017004398.1 | 2005 | Missense Mutation | CAA,CGA | Q,R 495 | XP_016859887.1 | |
XM_017004399.1 | 2005 | Missense Mutation | CAA,CGA | Q,R 495 | XP_016859888.1 | |
XM_017004400.1 | 2005 | Missense Mutation | CAA,CGA | Q,R 495 | XP_016859889.1 |