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TTTCTATTTTAATTTTGAGGCCTGC[C/T]CACTCCTGGAAAATATCTCAAAAAA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 608689 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
MESP1 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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MESP1 - mesoderm posterior bHLH transcription factor 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_018670.3 | 1869 | Intron | NP_061140.1 |
WDR93 - WD repeat domain 93 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001284395.1 | 1869 | Missense Mutation | CCA,TCA | P,S 588 | NP_001271324.1 | |
NM_001284396.1 | 1869 | Intron | NP_001271325.1 | |||
NM_020212.1 | 1869 | Missense Mutation | CCA,TCA | P,S 616 | NP_064597.1 | |
XM_006720614.1 | 1869 | Silent Mutation | GCC,GCT | A,A 594 | XP_006720677.1 | |
XM_006720615.1 | 1869 | Silent Mutation | GCC,GCT | A,A 565 | XP_006720678.1 | |
XM_006720618.2 | 1869 | Intron | XP_006720681.1 | |||
XM_011521794.2 | 1869 | Silent Mutation | GCC,GCT | A,A 594 | XP_011520096.1 | |
XM_011521795.1 | 1869 | Silent Mutation | GCC,GCT | A,A 594 | XP_011520097.1 | |
XM_011521796.2 | 1869 | Missense Mutation | CCA,TCA | P,S 570 | XP_011520098.1 | |
XM_011521798.2 | 1869 | Silent Mutation | GCC,GCT | A,A 396 | XP_011520100.1 | |
XM_011521800.1 | 1869 | Silent Mutation | GCC,GCT | A,A 396 | XP_011520102.1 | |
XM_011521802.2 | 1869 | Intron | XP_011520104.1 | |||
XM_017022415.1 | 1869 | Silent Mutation | GCC,GCT | A,A 418 | XP_016877904.1 | |
XM_017022416.1 | 1869 | Silent Mutation | GCC,GCT | A,A 396 | XP_016877905.1 | |
XM_017022417.1 | 1869 | Intron | XP_016877906.1 |