Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GTGCTCCAGCAGTTGCCGCGCCCAG[C/G]CCCGAGAGAGGCCCTAGGGCGCTGC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
11 submissions
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Phenotype: |
MIM: 156570 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
MTR 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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MTR - 5-methyltetrahydrofolate-homocysteine methyltransferase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000254.2 | 1200 | UTR 5 | NP_000245.2 | |||
NM_001291939.1 | 1200 | UTR 5 | NP_001278868.1 | |||
NM_001291940.1 | 1200 | UTR 5 | NP_001278869.1 | |||
XM_005273141.4 | 1200 | UTR 5 | XP_005273198.1 | |||
XM_006711770.2 | 1200 | Intron | XP_006711833.1 | |||
XM_011544194.2 | 1200 | Missense Mutation | AGC,AGG | S,R 61 | XP_011542496.1 | |
XM_017001329.1 | 1200 | Missense Mutation | AGC,AGG | S,R 61 | XP_016856818.1 | |
XM_017001330.1 | 1200 | Missense Mutation | AGC,AGG | S,R 61 | XP_016856819.1 |