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TCTAGATTATAATTAAGCTCCTTGG[C/T]GACTGGAGTCCTTGTTGAGTTGCAA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 614567 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
DIAPH3 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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DIAPH3 - diaphanous related formin 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001042517.1 | 3616 | Missense Mutation | CCC,TCC | P,S 1133 | NP_001035982.1 | |
NM_001258366.1 | 3616 | Missense Mutation | CCC,TCC | P,S 1122 | NP_001245295.1 | |
NM_001258367.1 | 3616 | Missense Mutation | CCC,TCC | P,S 1087 | NP_001245296.1 | |
NM_001258368.1 | 3616 | Missense Mutation | CCC,TCC | P,S 1063 | NP_001245297.1 | |
NM_001258369.1 | 3616 | Intron | NP_001245298.1 | |||
NM_001258370.1 | 3616 | Intron | NP_001245299.1 | |||
NM_030932.3 | 3616 | Intron | NP_112194.2 | |||
XM_006719876.1 | 3616 | Missense Mutation | CCC,TCC | P,S 870 | XP_006719939.1 | |
XM_011535258.2 | 3616 | Intron | XP_011533560.1 | |||
XM_011535263.2 | 3616 | Intron | XP_011533565.1 | |||
XM_011535265.2 | 3616 | Intron | XP_011533567.1 | |||
XM_017020789.1 | 3616 | Intron | XP_016876278.1 |