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AAAACTTTACCCAAGAGCCATTTAT[C/T]TCGGGTGATTATTCATGATAACCGC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 606698 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
C5orf52 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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C5orf52 - chromosome 5 open reading frame 52 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001145132.1 | 331 | Missense Mutation | TCT,TTT | S,F 90 | NP_001138604.1 | |
XM_011534416.1 | 331 | Missense Mutation | TCT,TTT | S,F 90 | XP_011532718.1 | |
XM_017008909.1 | 331 | Intron | XP_016864398.1 |
SOX30 - SRY-box 30 | ||||||
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There are no transcripts associated with this gene. |