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AAACTTGTATGCTTCACCAAAATAT[A/T]TATTTGAGAATTATACAACAAAATT
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 | |||
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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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CFI - complement factor I | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000204.4 | 2165 | UTR 3 | NP_000195.2 | |||
NM_001318057.1 | 2165 | UTR 3 | NP_001304986.1 | |||
XM_005262976.1 | 2165 | UTR 3 | XP_005263033.1 | |||
XM_006714209.1 | 2165 | UTR 3 | XP_006714272.1 | |||
XM_006714210.3 | 2165 | Intron | XP_006714273.1 | |||
XM_011531920.1 | 2165 | Intron | XP_011530222.1 | |||
XM_017008164.1 | 2165 | Intron | XP_016863653.1 | |||
XM_017008165.1 | 2165 | Intron | XP_016863654.1 | |||
XM_017008166.1 | 2165 | Intron | XP_016863655.1 |