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CCCAAAGACCTAAGGTCCGAATTCA[G/T]GACGTTGTACCGTGTAATGTGAACC
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 | |||
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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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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 | 535 | Intron | NP_006720.1 | |||
NM_007309.3 | 535 | 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 | 535 | Missense Mutation | CAG,CAT | Q,H 44 | NP_037479.1 |