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AATGGGGCAGAAAGCATCGCAACAG[G/T]TGGCTCTGAAGGACAGCAAAGAGGT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 603141 MIM: 610848 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
PPFIBP1 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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PPFIBP1 - PPFIA binding protein 1 | ||||||
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There are no transcripts associated with this gene. |
REP15 - RAB15 effector protein | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001029874.1 | 93 | Missense Mutation | GTG,TTG | V,L 9 | NP_001025045.1 |