Product Details

SNP ID

rs201533281

Assay Type

Functionally Tested

NCBI dbSNP Submissions

3

Location

Chr.1:236795729 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATGTCACCCGCGCTCCAAGACCTGT[C/T]GCAACCCGGTAACGCTGCGACCCCG

Phenotype

MIM: 156570

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

MTR PubMed Links

Additional Information

For this assay, SNP(s) [rs10399834] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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	1426	Missense Mutation	TCG,TTG	S9L	NP_000245.2
NM_001291939.1	1426	Missense Mutation	TCG,TTG	S9L	NP_001278868.1
NM_001291940.1	1426	UTR 5			NP_001278869.1
XM_005273141.4	1426	Missense Mutation	TCG,TTG	S9L	XP_005273198.1
XM_006711770.2	1426	Intron			XP_006711833.1
XM_011544194.2	1426	Missense Mutation	CGC,TGC	R137C	XP_011542496.1
XM_017001329.1	1426	Missense Mutation	CGC,TGC	R137C	XP_016856818.1
XM_017001330.1	1426	Missense Mutation	CGC,TGC	R137C	XP_016856819.1

View Full Product Details