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ACTGCCCCATCCCTGCAGGAGACAG[C/T]GCGTCAGTTCCGGGGGGCCGTGGGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 615700 MIM: 613288 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
PYDC1 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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PYDC1 - pyrin domain containing 1 | ||||||
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There are no transcripts associated with this gene. |
TRIM72 - tripartite motif containing 72 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001008274.3 | 778 | Missense Mutation | GCG,GTG | A,V 165 | NP_001008275.2 | |
XM_017023254.1 | 778 | Missense Mutation | GCG,GTG | A,V 21 | XP_016878743.1 |