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TTACTCTCACTCCCCGCCGCGGGGG[C/T]GGTGCTCAGCTGCTTGGCCGCCGCG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 123805 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
PDE3A 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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PDE3A - phosphodiesterase 3A | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000921.4 | 618 | Missense Mutation | GCG,GTG | A,V 193 | NP_000912.3 | |
NM_001244683.1 | 618 | Intron | NP_001231612.1 | |||
XM_017019420.1 | 618 | Missense Mutation | GCG,GTG | A,V 193 | XP_016874909.1 | |
XM_017019421.1 | 618 | Intron | XP_016874910.1 |