Product Details

SNP ID
rs72955069
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:118843009 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TACAGTCCCTGGGCCATGAGGTGCA[A/G]CGCCAGGCCGTTCTTGATGCCTGTG
Phenotype
MIM: 131290
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
EN1 PubMed Links

Gene Details

Gene
EN1
Gene Name
engrailed homeobox 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001426.3 2124 Silent Mutation CTG,TTG L370L NP_001417.3

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