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GGTGTGCGTGCTGTCTTATGGTTGC[C/G]TGGCGAGTTTCTGCTTCAGATGGTA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
3 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 |
---|---|---|
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 |
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 | 329 | Silent Mutation | GCC,GCG | A,A 12 | NP_000707.1 | |
NM_001017364.1 | 329 | Silent Mutation | GCC,GCG | A,A 12 | NP_001017364.1 | |
NM_001017365.2 | 329 | Silent Mutation | GCC,GCG | A,A 12 | NP_001017365.1 | |
NM_001017366.2 | 329 | Silent Mutation | GCC,GCG | A,A 12 | NP_001017366.1 | |
NM_001017367.1 | 329 | Silent Mutation | GCC,GCG | A,A 12 | NP_001017367.1 | |
XM_005273254.4 | 329 | Silent Mutation | GCC,GCG | A,A 12 | XP_005273311.1 | |
XM_005273255.2 | 329 | Silent Mutation | GCC,GCG | A,A 12 | 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. |