Product Details

SNP ID

rs202090552

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:72918239 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGCCATGAACCACCCCGCGCTGAC[C/T]GTGCATCCGGCGCACCAGCTGGGCG

Phenotype

MIM: 600034

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

EMX1 PubMed Links

Gene Details

Gene

EMX1

Gene Name

empty spiracles homeobox 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004097.2	774	Silent Mutation	ACC,ACT	T129T	NP_004088.2
XM_005264203.3	774	Silent Mutation	ACC,ACT	T129T	XP_005264260.1
XM_011532697.2	774	Intron			XP_011530999.1

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