Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CGCGTCCGTGGCCGCCGGACTCTGC[A/G]CGCATGTCCAACAGCCCCCGTCCCC
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
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CEPH (CEU) - Not Available | ||||||
EAS
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African American
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YRI (Yoruba) - Not Available | ||||||
SAS
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Japanese
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CHB (Han Chinese) - Not Available | ||||||
AFR
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Chinese
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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 | 2 | Intron | NP_001138604.1 | |||
XM_011534416.1 | 2 | Intron | XP_011532718.1 | |||
XM_017008909.1 | 2 | Missense Mutation | ACG,GCG | T,A 16 | XP_016864398.1 |
SOX30 - SRY-box 30 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001308165.1 | 2 | UTR 5 | NP_001295094.1 | |||
NM_007017.2 | 2 | Intron | NP_008948.1 | |||
NM_178424.1 | 2 | Intron | NP_848511.1 | |||
XM_005265803.4 | 2 | Intron | XP_005265860.1 | |||
XM_011534420.1 | 2 | UTR 5 | XP_011532722.1 |
Set Membership: |
Validated |