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CCCTAGGAGCTGTCCAGAACTGGAC[A/G]TGGCCATCTCTTGTCCTAAAATGAA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 600407 | ||||||||||||||||||||
Literature Links: |
RFC5 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 |
RFC5 - replication factor C subunit 5 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001130112.2 | 1131 | Intron | NP_001123584.1 | |||
NM_001206801.1 | 1131 | Intron | NP_001193730.1 | |||
NM_007370.5 | 1131 | Intron | NP_031396.1 | |||
NM_181578.3 | 1131 | Intron | NP_853556.2 | |||
XM_011538643.2 | 1131 | Intron | XP_011536945.1 | |||
XM_011538645.2 | 1131 | Intron | XP_011536947.1 | |||
XM_017019779.1 | 1131 | Intron | XP_016875268.1 |
WSB2 - WD repeat and SOCS box containing 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001278557.1 | 1131 | Silent Mutation | CAC,CAT | H,H 373 | NP_001265486.1 | |
NM_001278558.1 | 1131 | Silent Mutation | CAC,CAT | H,H 146 | NP_001265487.1 | |
NM_018639.4 | 1131 | Silent Mutation | CAC,CAT | H,H 356 | NP_061109.1 | |
XM_017019642.1 | 1131 | Silent Mutation | CAC,CAT | H,H 146 | XP_016875131.1 |