Product Details

SNP ID

rs149999157

Assay Type

Functionally tested

NCBI dbSNP Submissions

6

Location

Chr.1:156468091 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGTGTGGGCCCGAAGTCCCCCCGTC[C/T]GTCATCCCGGTCTCCCGTCTCATAG

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	1923	Missense Mutation	AGA,GGA	R479G	NP_001258558.1
NM_005920.3	1923	Missense Mutation	AGA,GGA	R486G	NP_005911.1
XM_005245169.4	1923	Missense Mutation	AGA,GGA	R486G	XP_005245226.1
XM_005245170.3	1923	Missense Mutation	AGA,GGA	R486G	XP_005245227.1
XM_006711330.3	1923	Missense Mutation	AGA,GGA	R486G	XP_006711393.1
XM_006711332.3	1923	Missense Mutation	AGA,GGA	R485G	XP_006711395.1
XM_006711333.2	1923	Missense Mutation	AGA,GGA	R479G	XP_006711396.1
XM_006711334.3	1923	Missense Mutation	AGA,GGA	R478G	XP_006711397.1
XM_011509569.2	1923	Missense Mutation	AGA,GGA	R486G	XP_011507871.1
XM_017001314.1	1923	Missense Mutation	AGA,GGA	R479G	XP_016856803.1
XM_017001315.1	1923	Missense Mutation	AGA,GGA	R479G	XP_016856804.1

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