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CCAATGAGGCTTACAGCTTTTGGTA[C/T]TGATAGGCAGGTGGGGCACATAGTG
Species: |
Human | |||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 616292 | |||||||||||||||||||||||||||||||||||||||||
Literature Links: |
SAXO1 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)
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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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SAXO1 - stabilizer of axonemal microtubules 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001287049.1 | 1440 | Missense Mutation | AAT,AGT | N,S 320 | NP_001273978.1 | |
NM_001287050.1 | 1440 | UTR 3 | NP_001273979.1 | |||
NM_153707.3 | 1440 | Missense Mutation | AAT,AGT | N,S 385 | NP_714918.2 | |
XM_011517744.1 | 1440 | Missense Mutation | AAT,AGT | N,S 409 | XP_011516046.1 | |
XM_011517745.1 | 1440 | Missense Mutation | AAT,AGT | N,S 390 | XP_011516047.1 | |
XM_011517746.2 | 1440 | Missense Mutation | AAT,AGT | N,S 390 | XP_011516048.1 | |
XM_011517747.2 | 1440 | Missense Mutation | AAT,AGT | N,S 323 | XP_011516049.1 | |
XM_017014314.1 | 1440 | Missense Mutation | AAT,AGT | N,S 390 | XP_016869803.1 | |
XM_017014315.1 | 1440 | Missense Mutation | AAT,AGT | N,S 320 | XP_016869804.1 |