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TCTTTCATTTTCTTGGGGATTGGCA[A/G]TGCTAGGACTTGGTAAGTTGTTAGG
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 | ||||||
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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)
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EUR
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AMR
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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 | 1228 | Intron | NP_001123584.1 | |||
NM_001206801.1 | 1228 | Intron | NP_001193730.1 | |||
NM_007370.5 | 1228 | Intron | NP_031396.1 | |||
NM_181578.3 | 1228 | Intron | NP_853556.2 | |||
XM_011538643.2 | 1228 | Intron | XP_011536945.1 | |||
XM_011538645.2 | 1228 | Intron | XP_011536947.1 | |||
XM_017019779.1 | 1228 | 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 | 1228 | Silent Mutation | CTG,TTG | L,L 406 | NP_001265486.1 | |
NM_001278558.1 | 1228 | Silent Mutation | CTG,TTG | L,L 179 | NP_001265487.1 | |
NM_018639.4 | 1228 | Silent Mutation | CTG,TTG | L,L 389 | NP_061109.1 | |
XM_017019642.1 | 1228 | Silent Mutation | CTG,TTG | L,L 179 | XP_016875131.1 |
Set Membership: |
HapMap |