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GATCTACAAAGTTCTTCAATGTGTG[C/T]GGAACAAAGACAAGAAGCAGATAGA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
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Literature Links: |
ANKEF1 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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ANKEF1 - ankyrin repeat and EF-hand domain containing 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001303472.1 | 504 | UTR 5 | NP_001290401.1 | |||
NM_022096.5 | 504 | Missense Mutation | CGG,TGG | R,W 21 | NP_071379.3 | |
NM_198798.2 | 504 | Missense Mutation | CGG,TGG | R,W 21 | NP_942093.1 | |
XM_005260792.2 | 504 | Intron | XP_005260849.1 |
SNAP25-AS1 - SNAP25 antisense RNA 1 | ||||||
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There are no transcripts associated with this gene. |