Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
AGCCAGGTAACGCTGTGCAAATGCT[C/T]GGGCGGCGATTTTTTGTGATGTCTC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 615876 | ||||||||||||||||||||||||||||||||||||||||||||
Literature Links: |
RSPH3 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)
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EAS
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African American - Not Available | YRI (Yoruba)
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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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RSPH3 - radial spoke 3 homolog | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_031924.4 | 704 | Missense Mutation | CAA,CGA | Q,R 398 | NP_114130.3 | |
XM_005267153.4 | 704 | Missense Mutation | CAA,CGA | Q,R 302 | XP_005267210.1 | |
XM_017011347.1 | 704 | Missense Mutation | CAA,CGA | Q,R 126 | XP_016866836.1 |
Set Membership: |
HapMap |