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AGGCTTCGGCCACTTGAGGCTTTTC[C/G]TAAGTCTCCACCTCCATGGCACGGA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605663 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
RSPH14 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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RSPH14 - radial spoke head 14 homolog | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_014433.2 | 1465 | Silent Mutation | TAC,TAG | Y,* 324 | NP_055248.1 | |
XM_011530149.2 | 1465 | Silent Mutation | TAC,TAG | Y,* 374 | XP_011528451.1 | |
XM_011530150.1 | 1465 | Nonsense Mutation | CGA,GGA | R,G 369 | XP_011528452.1 | |
XM_011530151.2 | 1465 | Nonsense Mutation | CGA,GGA | R,G 369 | XP_011528453.1 | |
XM_011530152.2 | 1465 | Nonsense Mutation | CGA,GGA | R,G 369 | XP_011528454.1 | |
XM_011530154.2 | 1465 | Nonsense Mutation | CGA,GGA | R,G 301 | XP_011528456.1 | |
XM_011530155.2 | 1465 | Nonsense Mutation | CGA,GGA | R,G 237 | XP_011528457.1 | |
XM_017028774.1 | 1465 | Nonsense Mutation | CGA,GGA | R,G 369 | XP_016884263.1 |