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GCGTTCGGTGAGGACGCAGCGCTTC[C/T]GCTTCCACAGCTGCAGCAGCCCGCC
Species: |
Human | |||||||||||||||||||||||||||||
dbSNP Submissions: |
28 submissions
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Phenotype: |
MIM: 607054 | |||||||||||||||||||||||||||||
Literature Links: |
PHLDA3 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 | |||
SAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
EAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
EUR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
AFR - Not Available | |||||
PHLDA3 - pleckstrin homology like domain family A member 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_012396.4 | 468 | Missense Mutation | CAG,CGG | Q,R 28 | NP_036528.1 |