Product Details

SNP ID

rs142996375

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:86532217 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCTTCAGGTCACTCACACGGGCGT[C/G]CCCGGGGAGGTTCCCAACGTAAACA

Phenotype

MIM: 616820

Polymorphism

C/G, Transversion 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	997	Missense Mutation	CAC,GAC	H316D	NP_001152849.1
NM_001159378.1	997	Missense Mutation	CAC,GAC	H316D	NP_001152850.1
NM_001159379.1	997	Missense Mutation	CAC,GAC	H315D	NP_001152851.1
NM_001159380.1	997	Missense Mutation	CAC,GAC	H296D	NP_001152852.1
NM_022764.2	997	Missense Mutation	CAC,GAC	H315D	NP_073601.2
XM_005256101.1	997	Missense Mutation	CAC,GAC	H296D	XP_005256158.1
XM_005256105.1	997	Missense Mutation	CAC,GAC	H174D	XP_005256162.1
XM_005256106.1	997	Missense Mutation	CAC,GAC	H174D	XP_005256163.1
XM_006721247.3	997	Missense Mutation	CAC,GAC	H153D	XP_006721310.1
XM_011523280.2	997	Missense Mutation	CAC,GAC	H296D	XP_011521582.1
XM_011523282.2	997	Intron			XP_011521584.1
XM_011523283.2	997	Intron			XP_011521585.1
XM_011523284.2	997	Intron			XP_011521586.1
XM_011523285.1	997	Missense Mutation	CAC,GAC	H153D	XP_011521587.1
XM_011523286.1	997	Missense Mutation	CAC,GAC	H153D	XP_011521588.1
XM_011523287.1	997	Missense Mutation	CAC,GAC	H153D	XP_011521589.1
XM_011523288.1	997	Missense Mutation	CAC,GAC	H153D	XP_011521590.1
XM_011523289.1	997	Missense Mutation	CAC,GAC	H153D	XP_011521591.1
XM_017023571.1	997	Missense Mutation	CAC,GAC	H278D	XP_016879060.1
XM_017023572.1	997	Missense Mutation	CAC,GAC	H277D	XP_016879061.1
XM_017023573.1	997	Missense Mutation	CAC,GAC	H174D	XP_016879062.1
XM_017023574.1	997	Missense Mutation	CAC,GAC	H153D	XP_016879063.1

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