Product Details

SNP ID
rs138540323
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:42248630 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCCAGCGGGGCCCCCACCCCCTTC[G/T]AGGCGACAGTCTTCACTCCAGCGCC
Phenotype
MIM: 611888 MIM: 606784
Polymorphism
G/T, Transversion 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 1507 Silent Mutation CTG,CTT L419L NP_001287964.1
NM_001308402.1 1507 Silent Mutation CTG,CTT L419L NP_001295331.1
NM_001312656.1 1507 Silent Mutation CTG,CTT L419L NP_001299585.1
NM_006494.3 1507 Silent Mutation CTG,CTT L494L NP_006485.2
XM_017026468.1 1507 Silent Mutation CTG,CTT L419L XP_016881957.1
XM_017026469.1 1507 Silent Mutation CTG,CTT L419L XP_016881958.1
Gene
GSK3A
Gene Name
glycogen synthase kinase 3 alpha
There are no transcripts associated with this gene.

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