Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
AGCCAACGCCAGGGTGTAGGGCTTC[A/C]CTTCCTGATGCTGCAAACAGCGCTT
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 |
---|---|---|
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 |
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 | 504 | Missense Mutation | GGG,GTG | G,V 109 | NP_001186687.1 | |
NM_006441.3 | 504 | Missense Mutation | GGG,GTG | G,V 166 | 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 | 504 | Missense Mutation | GGG,GTG | G,V 142 | NP_001186689.1 |