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TTTGTATAGATATTCCTCACTCTAC[A/G]GTCACAGATTTGGCAAGATTCCGTG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 138292 | ||||||||||||||||||||
Literature Links: |
GFPT1 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 |
GFPT1 - glutamine--fructose-6-phosphate transaminase 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001244710.1 | 2176 | Silent Mutation | ACC,ACT | T,T 697 | NP_001231639.1 | |
NM_002056.3 | 2176 | Silent Mutation | ACC,ACT | T,T 679 | NP_002047.2 | |
XM_017003801.1 | 2176 | Silent Mutation | ACC,ACT | T,T 722 | XP_016859290.1 | |
XM_017003802.1 | 2176 | Silent Mutation | ACC,ACT | T,T 704 | XP_016859291.1 |