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CGCCATGGGGTCAAAGTCCAGCACA[C/T]GTAGGCCCTGCAGGCTGCGGGCCCG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 610953 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
PIF1 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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PIF1 - PIF1 5'-to-3' DNA helicase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001286496.1 | 1818 | Missense Mutation | CAT,CGT | H,R 592 | NP_001273425.1 | |
NM_001286497.1 | 1818 | Missense Mutation | CAT,CGT | H,R 592 | NP_001273426.1 | |
NM_001286499.1 | 1818 | Missense Mutation | CAT,CGT | H,R 539 | NP_001273428.1 | |
NM_025049.3 | 1818 | Missense Mutation | CAT,CGT | H,R 592 | NP_079325.2 | |
XM_011522083.2 | 1818 | Missense Mutation | CAT,CGT | H,R 592 | XP_011520385.1 | |
XM_011522084.2 | 1818 | Missense Mutation | CAT,CGT | H,R 592 | XP_011520386.1 |