Product Details

SNP ID
rs200540167
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:42248966 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGCCCGCTGCCGGCGTCCGAGTGG[A/G]GGCGGCTGGAGCTTAAACTTGAATG
Phenotype
MIM: 611888 MIM: 606784
Polymorphism
A/G, 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 1171 Silent Mutation CCC,CCT P307P NP_001287964.1
NM_001308402.1 1171 Silent Mutation CCC,CCT P307P NP_001295331.1
NM_001312656.1 1171 Silent Mutation CCC,CCT P307P NP_001299585.1
NM_006494.3 1171 Silent Mutation CCC,CCT P382P NP_006485.2
XM_017026468.1 1171 Silent Mutation CCC,CCT P307P XP_016881957.1
XM_017026469.1 1171 Silent Mutation CCC,CCT P307P XP_016881958.1
Gene
GSK3A
Gene Name
glycogen synthase kinase 3 alpha
There are no transcripts associated with this gene.

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