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AGATGCCTTTATAGCTTGAAGTGAG[G/T]ATGGAGTAAGGTGGGCTTCCTTATT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 102579 MIM: 608151 | ||||||||||||||||||||
Literature Links: |
RFC1 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 |
RFC1 - replication factor C subunit 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001204747.1 | 3283 | Missense Mutation | TAC,TCC | Y,S 1075 | NP_001191676.1 | |
NM_002913.4 | 3283 | Missense Mutation | TAC,TCC | Y,S 1074 | NP_002904.3 | |
XM_011513730.1 | 3283 | Missense Mutation | TAC,TCC | Y,S 1049 | XP_011512032.1 | |
XM_011513731.1 | 3283 | Missense Mutation | TAC,TCC | Y,S 905 | XP_011512033.1 | |
XM_017008528.1 | 3283 | Missense Mutation | TAC,TCC | Y,S 1048 | XP_016864017.1 |
WDR19 - WD repeat domain 19 | ||||||
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There are no transcripts associated with this gene. |