Product Details

SNP ID

rs148967146

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:155462422 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAGAACCCGAACAAAGAGGACAAGC[G/T]GCCGCGCACGGCCTTTACCGCCGAG

Phenotype

MIM: 131310

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

EN2 PubMed Links

Gene Details

Gene

EN2

Gene Name

engrailed homeobox 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001427.3	986	Missense Mutation	CGG,CTG	R246L	NP_001418.2

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