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AGGCAGTGACCAACTGTGTGAGAGA[A/G]ATGCAACTCCTGCTATTAAGACCCA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 300108 MIM: 300767 | ||||||||||||||||||||
Literature Links: |
DIAPH2 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
DIAPH2 - diaphanous related formin 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_006729.4 | 488 | Intron | NP_006720.1 | |||
NM_007309.3 | 488 | Intron | NP_009293.1 |
RPA4 - replication protein A4 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_013347.4 | 488 | Missense Mutation | AAT,GAT | N,D 29 | NP_037479.1 |