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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