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AGACATCAGGGGAGTTGTCCTGGAC[A/G]GTGTCAAAAGTCAGATGGTGAGGAG
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 |
---|---|---|
Global - Not Available | 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 |
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 | 612 | Missense Mutation | AGT,GGT | S,G 182 | NP_001025045.1 |