Product Details

SNP ID

rs140205006

Assay Type

Functionally tested

NCBI dbSNP Submissions

14

Location

Chr.1:156468124 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGGTCTCCCGTCTCATAGGATCCCC[C/T]GGCTGGGCTGCTGAGACCATCGCCA

Phenotype

MIM: 600663

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

MEF2D PubMed Links

Gene Details

Gene

MEF2D

Gene Name

myocyte enhancer factor 2D

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001271629.1	1890	Missense Mutation	AGG,GGG	R468G	NP_001258558.1
NM_005920.3	1890	Missense Mutation	AGG,GGG	R475G	NP_005911.1
XM_005245169.4	1890	Missense Mutation	AGG,GGG	R475G	XP_005245226.1
XM_005245170.3	1890	Missense Mutation	AGG,GGG	R475G	XP_005245227.1
XM_006711330.3	1890	Missense Mutation	AGG,GGG	R475G	XP_006711393.1
XM_006711332.3	1890	Missense Mutation	AGG,GGG	R474G	XP_006711395.1
XM_006711333.2	1890	Missense Mutation	AGG,GGG	R468G	XP_006711396.1
XM_006711334.3	1890	Missense Mutation	AGG,GGG	R467G	XP_006711397.1
XM_011509569.2	1890	Missense Mutation	AGG,GGG	R475G	XP_011507871.1
XM_017001314.1	1890	Missense Mutation	AGG,GGG	R468G	XP_016856803.1
XM_017001315.1	1890	Missense Mutation	AGG,GGG	R468G	XP_016856804.1

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