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GTGATGCACATTGAGGGCGCAATGC[A/G]AAATGTCTGAGGAGACACCAAAAAA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 612471 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
AGXT2 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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AGXT2 - alanine--glyoxylate aminotransferase 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001306173.1 | 1737 | Missense Mutation | CGC,TGC | R,C 407 | NP_001293102.1 | |
NM_031900.3 | 1737 | Missense Mutation | CGC,TGC | R,C 482 | NP_114106.1 | |
XM_005248337.2 | 1737 | Missense Mutation | CGC,TGC | R,C 481 | XP_005248394.1 | |
XM_005248338.2 | 1737 | Missense Mutation | CGC,TGC | R,C 417 | XP_005248395.1 | |
XM_017009748.1 | 1737 | Missense Mutation | CGC,TGC | R,C 407 | XP_016865237.1 |