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GGGGTGTTTCTCTCCAGGCGCTTGG[C/T]CTAGGGGAGGACTGGAATGTGGAGA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
12 submissions
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Phenotype: |
MIM: 153454 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
PLOD1 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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PLOD1 - procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000302.3 | 431 | Silent Mutation | GGC,GGT | G,G 59 | NP_000293.2 | |
NM_001316320.1 | 431 | Silent Mutation | GGC,GGT | G,G 106 | NP_001303249.1 |