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CCGAATGGTCACCCGAGTTTGGGGC[A/G]TTTTGGCTGCACAAGAAAAAGAAAG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 190040 | ||||||||||||||||||||
Literature Links: |
PDGFB 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 |
PDGFB - platelet derived growth factor subunit B | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_002608.3 | 1700 | Missense Mutation | ACG,ATG | T,M 203 | NP_002599.1 | |
NM_033016.3 | 1700 | Missense Mutation | ACG,ATG | T,M 188 | NP_148937.1 |