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GGGTCATGGAGCCTCCGTTTCTCTC[A/G]CATTCTGGGTGGGCCTGTTGAGAAG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
4 submissions
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Phenotype: |
MIM: 607093 | ||||||||||||||||||||
Literature Links: |
C1orf167 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 |
C1orf167 - chromosome 1 open reading frame 167 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001010881.1 | 3015 | Intron | NP_001010881.1 |
MTHFR - methylenetetrahydrofolate reductase (NAD(P)H) | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_005957.4 | 3015 | Missense Mutation | GCG,GTG | A,V 650 | NP_005948.3 | |
XM_005263458.3 | 3015 | Missense Mutation | GCG,GTG | A,V 691 | XP_005263515.1 | |
XM_005263460.4 | 3015 | Missense Mutation | GCG,GTG | A,V 650 | XP_005263517.1 | |
XM_005263462.4 | 3015 | Missense Mutation | GCG,GTG | A,V 650 | XP_005263519.1 | |
XM_005263463.3 | 3015 | Missense Mutation | GCG,GTG | A,V 568 | XP_005263520.1 | |
XM_011541495.2 | 3015 | Missense Mutation | GCG,GTG | A,V 690 | XP_011539797.1 | |
XM_011541496.2 | 3015 | Silent Mutation | TGC,TGT | C,C 630 | XP_011539798.1 | |
XM_017001328.1 | 3015 | Missense Mutation | GCG,GTG | A,V 641 | XP_016856817.1 |