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TTGGACAGAGGAAATCCTTGCTGCA[A/G]TTTTGCTAAAATATAGAACAAGACG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 614109 MIM: 613901 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
BPIFC 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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BPIFC - BPI fold containing family C | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_174932.2 | 1467 | Silent Mutation | CTG,TTG | L,L 444 | NP_777592.1 | |
XM_011530088.2 | 1467 | Silent Mutation | CTG,TTG | L,L 444 | XP_011528390.1 | |
XM_011530089.1 | 1467 | Silent Mutation | CTG,TTG | L,L 444 | XP_011528391.1 | |
XM_011530090.1 | 1467 | Silent Mutation | CTG,TTG | L,L 444 | XP_011528392.1 | |
XM_011530091.2 | 1467 | Silent Mutation | CTG,TTG | L,L 392 | XP_011528393.1 | |
XM_017028740.1 | 1467 | Silent Mutation | CTG,TTG | L,L 387 | XP_016884229.1 |
RTCB - RNA 2',3'-cyclic phosphate and 5'-OH ligase | ||||||
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There are no transcripts associated with this gene. |