Product Details

SNP ID
rs149405304
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.19:42249055 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGACCGGTGGGGTCTCGGGTGCCA[C/T]GGGCGGCAGCGGGCACTTGTCAGGG
Phenotype
MIM: 611888 MIM: 606784
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
ERF PubMed Links

Gene Details

Gene
ERF
Gene Name
ETS2 repressor factor
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001301035.1 1082 Missense Mutation ATG,GTG M278V NP_001287964.1
NM_001308402.1 1082 Missense Mutation ATG,GTG M278V NP_001295331.1
NM_001312656.1 1082 Missense Mutation ATG,GTG M278V NP_001299585.1
NM_006494.3 1082 Missense Mutation ATG,GTG M353V NP_006485.2
XM_017026468.1 1082 Missense Mutation ATG,GTG M278V XP_016881957.1
XM_017026469.1 1082 Missense Mutation ATG,GTG M278V XP_016881958.1
Gene
GSK3A
Gene Name
glycogen synthase kinase 3 alpha
There are no transcripts associated with this gene.

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