Product Details

SNP ID

rs200853025

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:86532232 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACACGGGCGTCCCCGGGGAGGTTCC[C/T]AACGTAAACATCGGCTGCAAGCGGG

Phenotype

MIM: 616820

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

MTHFSD PubMed Links

Gene Details

Gene

MTHFSD

Gene Name

methenyltetrahydrofolate synthetase domain containing

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001159377.1	982	Missense Mutation	AGG,GGG	R311G	NP_001152849.1
NM_001159378.1	982	Missense Mutation	AGG,GGG	R311G	NP_001152850.1
NM_001159379.1	982	Missense Mutation	AGG,GGG	R310G	NP_001152851.1
NM_001159380.1	982	Missense Mutation	AGG,GGG	R291G	NP_001152852.1
NM_022764.2	982	Missense Mutation	AGG,GGG	R310G	NP_073601.2
XM_005256101.1	982	Missense Mutation	AGG,GGG	R291G	XP_005256158.1
XM_005256105.1	982	Missense Mutation	AGG,GGG	R169G	XP_005256162.1
XM_005256106.1	982	Missense Mutation	AGG,GGG	R169G	XP_005256163.1
XM_006721247.3	982	Missense Mutation	AGG,GGG	R148G	XP_006721310.1
XM_011523280.2	982	Missense Mutation	AGG,GGG	R291G	XP_011521582.1
XM_011523282.2	982	Intron			XP_011521584.1
XM_011523283.2	982	Intron			XP_011521585.1
XM_011523284.2	982	Intron			XP_011521586.1
XM_011523285.1	982	Missense Mutation	AGG,GGG	R148G	XP_011521587.1
XM_011523286.1	982	Missense Mutation	AGG,GGG	R148G	XP_011521588.1
XM_011523287.1	982	Missense Mutation	AGG,GGG	R148G	XP_011521589.1
XM_011523288.1	982	Missense Mutation	AGG,GGG	R148G	XP_011521590.1
XM_011523289.1	982	Missense Mutation	AGG,GGG	R148G	XP_011521591.1
XM_017023571.1	982	Missense Mutation	AGG,GGG	R273G	XP_016879060.1
XM_017023572.1	982	Missense Mutation	AGG,GGG	R272G	XP_016879061.1
XM_017023573.1	982	Missense Mutation	AGG,GGG	R169G	XP_016879062.1
XM_017023574.1	982	Missense Mutation	AGG,GGG	R148G	XP_016879063.1

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