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AAAGAAGGTAAGAGCCGTGCTGTCG[C/T]GCATACCAGTTGCCATAGCGGTAAC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607811 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
C6orf52 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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C6orf52 - chromosome 6 open reading frame 52 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001145020.1 | 268 | Silent Mutation | GCA,GCG | A,A 48 | NP_001138492.1 | |
XM_006715088.3 | 268 | Silent Mutation | GCA,GCG | A,A 48 | XP_006715151.1 | |
XM_011514572.2 | 268 | Silent Mutation | GCA,GCG | A,A 73 | XP_011512874.1 | |
XM_011514574.2 | 268 | Silent Mutation | GCA,GCG | A,A 73 | XP_011512876.1 | |
XM_011514575.2 | 268 | Silent Mutation | GCA,GCG | A,A 42 | XP_011512877.1 |
PAK1IP1 - PAK1 interacting protein 1 | ||||||
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There are no transcripts associated with this gene. |