Product Details

SNP ID
rs113852997
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:117543523 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCGCCCAACCCCGCCGTGCCAGTG[C/T]ACCCGGTGCCGCCGCCGCACGCCCT
Phenotype
MIM: 600035 MIM: 607637
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
EMX2 PubMed Links

Gene Details

Gene
EMX2
Gene Name
empty spiracles homeobox 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001165924.1 1079 Missense Mutation CAC,TAC H86Y NP_001159396.1
NM_004098.3 1079 Missense Mutation CAC,TAC H86Y NP_004089.1
Gene
EMX2OS
Gene Name
EMX2 opposite strand/antisense RNA
There are no transcripts associated with this gene.

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