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CTTCCCATCTCAACCAGGATCCTGA[C/T]GTATGAGGAAAAAGCGAGAGAAAAG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 601833 MIM: 142580 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
AIF1 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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AIF1 - allograft inflammatory factor 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001318970.1 | 428 | Missense Mutation | ACG,ATG | T,M 69 | NP_001305899.1 | |
NM_001623.4 | 428 | Missense Mutation | ACG,ATG | T,M 123 | NP_001614.3 | |
NM_032955.2 | 428 | Missense Mutation | ACG,ATG | T,M 69 | NP_116573.1 | |
XM_005248870.4 | 428 | Intron | XP_005248927.1 | |||
XM_017010332.1 | 428 | Intron | XP_016865821.1 |
PRRC2A - proline rich coiled-coil 2A | ||||||
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There are no transcripts associated with this gene. |
SNORA38 - small nucleolar RNA, H/ACA box 38 | ||||||
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There are no transcripts associated with this gene. |