Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 217030 | ||||||||||||||||||||
Literature Links: |
CFI 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 |
CFI - complement factor I | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000204.4 | 1945 | Missense Mutation | TAC,TCC | Y,S 571 | NP_000195.2 | |
NM_001318057.1 | 1945 | Missense Mutation | TAC,TCC | Y,S 579 | NP_001304986.1 | |
XM_005262976.1 | 1945 | Missense Mutation | TAC,TCC | Y,S 564 | XP_005263033.1 | |
XM_006714209.1 | 1945 | Missense Mutation | TAC,TCC | Y,S 578 | XP_006714272.1 | |
XM_006714210.3 | 1945 | Intron | XP_006714273.1 | |||
XM_011531920.1 | 1945 | Intron | XP_011530222.1 | |||
XM_017008164.1 | 1945 | Intron | XP_016863653.1 | |||
XM_017008165.1 | 1945 | Intron | XP_016863654.1 | |||
XM_017008166.1 | 1945 | Intron | XP_016863655.1 |