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GAGTGTGCCCAATGCTATATGTCAG[C/T]TGAGGTTCTAAGACTTGGAAGCCAC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604708 MIM: 125860 | ||||||||||||||||||||
Literature Links: |
NFAT5 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 |
NFAT5 - nuclear factor of activated T-cells 5, tonicity-responsive | ||||||
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There are no transcripts associated with this gene. |
NQO1 - NAD(P)H quinone dehydrogenase 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000903.2 | 653 | Silent Mutation | CAA,CAG | Q,Q 188 | NP_000894.1 | |
NM_001025433.1 | 653 | Silent Mutation | CAA,CAG | Q,Q 154 | NP_001020604.1 | |
NM_001025434.1 | 653 | Silent Mutation | CAA,CAG | Q,Q 150 | NP_001020605.1 | |
NM_001286137.1 | 653 | Silent Mutation | CAA,CAG | Q,Q 116 | NP_001273066.1 |