Product Details

SNP ID

rs607159

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:88722623 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

ATCTGATCATGTTGCCCATCCTTCA[A/G]AAAGTCGCATGCGCTTGACTGAGGG

Phenotype

MIM: 600662

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

MEF2C PubMed Links

Gene Details

Gene

MEF2C

Gene Name

myocyte enhancer factor 2C

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001131005.2	1518	Missense Mutation	TCT,TTT	S458F	NP_001124477.1
NM_001193347.1	1518	Missense Mutation	TCT,TTT	S478F	NP_001180276.1
NM_001193348.1	1518	Missense Mutation	TCT,TTT	S412F	NP_001180277.1
NM_001193349.1	1518	Missense Mutation	TCT,TTT	S388F	NP_001180278.1
NM_001193350.1	1518	Missense Mutation	TCT,TTT	S468F	NP_001180279.1
NM_001308002.1	1518	Missense Mutation	TCT,TTT	S460F	NP_001294931.1
NM_002397.4	1518	Missense Mutation	TCT,TTT	S468F	NP_002388.2
XM_005248511.2	1518	Missense Mutation	TCT,TTT	S468F	XP_005248568.1
XM_006714619.2	1518	Missense Mutation	TCT,TTT	S468F	XP_006714682.1
XM_006714625.3	1518	Missense Mutation	TCT,TTT	S478F	XP_006714688.1
XM_011543396.2	1518	Missense Mutation	TCT,TTT	S468F	XP_011541698.1
XM_011543397.2	1518	Missense Mutation	TCT,TTT	S466F	XP_011541699.1
XM_011543400.1	1518	Missense Mutation	TCT,TTT	S436F	XP_011541702.1
XM_011543401.1	1518	Missense Mutation	TCT,TTT	S428F	XP_011541703.1
XM_017009475.1	1518	Missense Mutation	TCT,TTT	S466F	XP_016864964.1
XM_017009476.1	1518	Missense Mutation	TCT,TTT	S460F	XP_016864965.1
XM_017009477.1	1518	Missense Mutation	TCT,TTT	S460F	XP_016864966.1
XM_017009478.1	1518	Missense Mutation	TCT,TTT	S458F	XP_016864967.1
XM_017009479.1	1518	Missense Mutation	TCT,TTT	S436F	XP_016864968.1
XM_017009480.1	1518	Missense Mutation	TCT,TTT	S436F	XP_016864969.1
XM_017009481.1	1518	Missense Mutation	TCT,TTT	S436F	XP_016864970.1
XM_017009482.1	1518	Missense Mutation	TCT,TTT	S428F	XP_016864971.1
XM_017009483.1	1518	Missense Mutation	TCT,TTT	S426F	XP_016864972.1

View Full Product Details