Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CCCTCCCCAGTCGGTTGCCATGTTT[A/G]TCAAACCCAAGGCCTGGCATGAAGA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604197 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
MTHFS 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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MTHFS - 5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase) | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001199758.1 | 427 | Silent Mutation | GAC,GAT | D,D 83 | NP_001186687.1 | |
NM_006441.3 | 427 | Silent Mutation | GAC,GAT | D,D 140 | NP_006432.1 |
ST20-MTHFS - ST20-MTHFS readthrough | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001199760.1 | 427 | Silent Mutation | GAC,GAT | D,D 116 | NP_001186689.1 |