Product Details

SNP ID

rs12472986

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:72912848 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCACGATGTTTGTTTCTGGGTAGTA[G/T]GATTTGACAATTATAAGATCTCTGT

Phenotype

MIM: 600034

Polymorphism

G/T, Transversion 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	1702	Intron			NP_004088.2
XM_005264203.3	1702	Intron			XP_005264260.1
XM_011532697.2	1702	UTR 5			XP_011530999.1

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