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CAGATGTTTTTTTGGTGTGCGTGCT[A/G]TCTTATGGTTGCGTGGCGAGTTTCT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
2 submissions
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Phenotype: |
MIM: 120831 MIM: 171835 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
C4BPB 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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C4BPB - complement component 4 binding protein beta | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000716.3 | 316 | Missense Mutation | TAT,TGT | Y,C 8 | NP_000707.1 | |
NM_001017364.1 | 316 | Missense Mutation | TAT,TGT | Y,C 8 | NP_001017364.1 | |
NM_001017365.2 | 316 | Missense Mutation | TAT,TGT | Y,C 8 | NP_001017365.1 | |
NM_001017366.2 | 316 | Missense Mutation | TAT,TGT | Y,C 8 | NP_001017366.1 | |
NM_001017367.1 | 316 | Missense Mutation | TAT,TGT | Y,C 8 | NP_001017367.1 | |
XM_005273254.4 | 316 | Missense Mutation | TAT,TGT | Y,C 8 | XP_005273311.1 | |
XM_005273255.2 | 316 | Missense Mutation | TAT,TGT | Y,C 8 | XP_005273312.1 |
PFKFB2 - 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 | ||||||
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There are no transcripts associated with this gene. |