Product Details

SNP ID
rs111840642
Assay Type
Functionally tested
NCBI dbSNP Submissions
11
Location
Chr.1:236795503 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTGCTCCAGCAGTTGCCGCGCCCAG[C/G]CCCGAGAGAGGCCCTAGGGCGCTGC
Phenotype
MIM: 156570
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
MTR PubMed Links

Gene Details

Gene
MTR
Gene Name
5-methyltetrahydrofolate-homocysteine methyltransferase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change 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 S61R XP_011542496.1
XM_017001329.1 1200 Missense Mutation AGC,AGG S61R XP_016856818.1
XM_017001330.1 1200 Missense Mutation AGC,AGG S61R XP_016856819.1

View Full Product Details