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AAACCATCCTGTTTTCCTATGGCAC[A/T]AAGAGGAATCCATATGAAATCCAGC
Species: |
Human | |||||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 602492 MIM: 609594 | |||||||||||||||||||||||
Literature Links: |
PTX3 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 - 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 |
PTX3 - pentraxin 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_002852.3 | 830 | Silent Mutation | ACA,ACT | T,T 229 | NP_002843.2 |
VEPH1 - ventricular zone expressed PH domain containing 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001167911.1 | 830 | Intron | NP_001161383.1 | |||
NM_001167912.1 | 830 | Intron | NP_001161384.1 | |||
NM_001167915.1 | 830 | Intron | NP_001161387.1 | |||
NM_001167916.1 | 830 | Intron | NP_001161388.1 | |||
NM_001167917.1 | 830 | Intron | NP_001161389.1 | |||
NM_024621.2 | 830 | Intron | NP_078897.2 | |||
XM_011513134.2 | 830 | Intron | XP_011511436.1 | |||
XM_011513135.1 | 830 | Intron | XP_011511437.1 |