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TCCGCTTTATCTAACCCAGCTACTG[A/C]GGCTTTGTTGGAGATAACAATATCA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 138440 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
GART 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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GART - phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000819.4 | 2847 | Missense Mutation | NP_000810.1 | |||
NM_001136005.1 | 2847 | Missense Mutation | NP_001129477.1 | |||
NM_001136006.1 | 2847 | Missense Mutation | NP_001129478.1 | |||
NM_175085.2 | 2847 | Intron | NP_780294.1 | |||
XM_005260941.1 | 2847 | Missense Mutation | XP_005260998.1 | |||
XM_006723989.1 | 2847 | Missense Mutation | XP_006724052.1 | |||
XM_006723990.1 | 2847 | Missense Mutation | XP_006724053.1 | |||
XM_011529526.1 | 2847 | Missense Mutation | XP_011527828.1 |