Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GAGGAAGTCGGGGGCTCCTTACCTG[A/G]CAACTCGGAAGCAGGAATGTTCTGC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605209 | ||||||||||||||||||||
Literature Links: |
CHFR 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 |
CHFR - checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001161344.1 | 1837 | Missense Mutation | CCA,TCA | P,S 626 | NP_001154816.1 | |
NM_001161345.1 | 1837 | Missense Mutation | CCA,TCA | P,S 625 | NP_001154817.1 | |
NM_001161346.1 | 1837 | Missense Mutation | CCA,TCA | P,S 614 | NP_001154818.1 | |
NM_001161347.1 | 1837 | Missense Mutation | CCA,TCA | P,S 534 | NP_001154819.1 | |
NM_018223.2 | 1837 | Missense Mutation | CCA,TCA | P,S 585 | NP_060693.2 |