Product Details

SNP ID

rs138045281

Assay Type

Functionally tested

NCBI dbSNP Submissions

3

Location

Chr.1:156468202 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTGGAGGGGGAGGCGCAGGGCTGC[A/G]CTCACGGCTTGGGGACACCGGTTCT

Phenotype

MIM: 600663

Polymorphism

A/G, 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	1812	Missense Mutation	CGC,TGC	R442C	NP_001258558.1
NM_005920.3	1812	Missense Mutation	CGC,TGC	R449C	NP_005911.1
XM_005245169.4	1812	Missense Mutation	CGC,TGC	R449C	XP_005245226.1
XM_005245170.3	1812	Missense Mutation	CGC,TGC	R449C	XP_005245227.1
XM_006711330.3	1812	Missense Mutation	CGC,TGC	R449C	XP_006711393.1
XM_006711332.3	1812	Missense Mutation	CGC,TGC	R448C	XP_006711395.1
XM_006711333.2	1812	Missense Mutation	CGC,TGC	R442C	XP_006711396.1
XM_006711334.3	1812	Missense Mutation	CGC,TGC	R441C	XP_006711397.1
XM_011509569.2	1812	Missense Mutation	CGC,TGC	R449C	XP_011507871.1
XM_017001314.1	1812	Missense Mutation	CGC,TGC	R442C	XP_016856803.1
XM_017001315.1	1812	Missense Mutation	CGC,TGC	R442C	XP_016856804.1

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