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GTTTTTAGACGCACGTCATATCCTC[A/G]GAGAACAGCCAGGTGGAAGGACAGC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 603865 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
GFPT2 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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GFPT2 - glutamine-fructose-6-phosphate transaminase 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_005110.3 | 2048 | Nonsense Mutation | CGA,TGA | R,* 665 | NP_005101.1 | |
XM_006714942.2 | 2048 | Intron | XP_006715005.1 | |||
XM_017010100.1 | 2048 | Nonsense Mutation | CGA,TGA | R,* 490 | XP_016865589.1 |