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GTTTTTTGTTTTTTATTACAAGAAG[C/T]GAAACCTTGTGATTTTCCAGAAATT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
16 submissions
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Phenotype: |
MIM: 605337 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CFHR4 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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CFHR4 - complement factor H related 4 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001201550.2 | 162 | Missense Mutation | GCG,GTG | A,V 21 | NP_001188479.1 | |
NM_001201551.1 | 162 | Missense Mutation | GCG,GTG | A,V 20 | NP_001188480.1 | |
NM_006684.4 | 162 | Missense Mutation | GCG,GTG | A,V 21 | NP_006675.2 | |
XM_006711129.3 | 162 | Intron | XP_006711192.1 | |||
XM_017000110.1 | 162 | Intron | XP_016855599.1 | |||
XM_017000111.1 | 162 | Missense Mutation | GCG,GTG | A,V 21 | XP_016855600.1 | |
XM_017000112.1 | 162 | Intron | XP_016855601.1 | |||
XM_017000113.1 | 162 | Missense Mutation | GCG,GTG | A,V 21 | XP_016855602.1 | |
XM_017000114.1 | 162 | Intron | XP_016855603.1 |