Product Details

SNP ID

rs187973880

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:86532226 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCACTCACACGGGCGTCCCCGGGGA[C/G]GTTCCCAACGTAAACATCGGCTGCA

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	988	Missense Mutation	CTC,GTC	L313V	NP_001152849.1
NM_001159378.1	988	Missense Mutation	CTC,GTC	L313V	NP_001152850.1
NM_001159379.1	988	Missense Mutation	CTC,GTC	L312V	NP_001152851.1
NM_001159380.1	988	Missense Mutation	CTC,GTC	L293V	NP_001152852.1
NM_022764.2	988	Missense Mutation	CTC,GTC	L312V	NP_073601.2
XM_005256101.1	988	Missense Mutation	CTC,GTC	L293V	XP_005256158.1
XM_005256105.1	988	Missense Mutation	CTC,GTC	L171V	XP_005256162.1
XM_005256106.1	988	Missense Mutation	CTC,GTC	L171V	XP_005256163.1
XM_006721247.3	988	Missense Mutation	CTC,GTC	L150V	XP_006721310.1
XM_011523280.2	988	Missense Mutation	CTC,GTC	L293V	XP_011521582.1
XM_011523282.2	988	Intron			XP_011521584.1
XM_011523283.2	988	Intron			XP_011521585.1
XM_011523284.2	988	Intron			XP_011521586.1
XM_011523285.1	988	Missense Mutation	CTC,GTC	L150V	XP_011521587.1
XM_011523286.1	988	Missense Mutation	CTC,GTC	L150V	XP_011521588.1
XM_011523287.1	988	Missense Mutation	CTC,GTC	L150V	XP_011521589.1
XM_011523288.1	988	Missense Mutation	CTC,GTC	L150V	XP_011521590.1
XM_011523289.1	988	Missense Mutation	CTC,GTC	L150V	XP_011521591.1
XM_017023571.1	988	Missense Mutation	CTC,GTC	L275V	XP_016879060.1
XM_017023572.1	988	Missense Mutation	CTC,GTC	L274V	XP_016879061.1
XM_017023573.1	988	Missense Mutation	CTC,GTC	L171V	XP_016879062.1
XM_017023574.1	988	Missense Mutation	CTC,GTC	L150V	XP_016879063.1

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