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AACTTACCTGAACATTTTTCCCAGT[C/T]ATAGCAGGTGTCATAGCCACAGGAT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 217050 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
C6 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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C6 - complement component 6 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000065.3 | 3002 | Missense Mutation | NP_000056.2 | |||
NM_001115131.2 | 3002 | Missense Mutation | NP_001108603.2 | |||
XM_005248357.2 | 3002 | Missense Mutation | XP_005248414.1 | |||
XM_006714496.3 | 3002 | Missense Mutation | XP_006714559.1 | |||
XM_011514114.2 | 3002 | Missense Mutation | XP_011512416.1 | |||
XM_011514115.2 | 3002 | Missense Mutation | XP_011512417.1 | |||
XM_011514116.2 | 3002 | Missense Mutation | XP_011512418.1 | |||
XM_011514117.2 | 3002 | Missense Mutation | XP_011512419.1 | |||
XM_011514118.2 | 3002 | Missense Mutation | XP_011512420.1 | |||
XM_011514119.2 | 3002 | Missense Mutation | XP_011512421.1 | |||
XM_011514121.2 | 3002 | Missense Mutation | XP_011512423.1 | |||
XM_017009818.1 | 3002 | Missense Mutation | XP_016865307.1 | |||
XM_017009819.1 | 3002 | Missense Mutation | XP_016865308.1 |