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TGCCTCCACGCCAGGCACCGTGGTC[C/T]GACTCAACAAGGCAGCATTGAGCTA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 614108 MIM: 613942 | ||||||||||||||||||||
Literature Links: |
BPIFB2 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
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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 |
BPIFB2 - BPI fold containing family B member 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_025227.2 | 299 | Nonsense Mutation | CGA,TGA | R,* 28 | NP_079503.1 |
SUN5 - Sad1 and UNC84 domain containing 5 | ||||||
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There are no transcripts associated with this gene. |