Product Details

SNP ID

rs145326362

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:118843167 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTTTGCCTGGAACTCCGCCTTGAGT[C/T]TCTGCAGCTGCTCGGCCGTGAACGC

Phenotype

MIM: 131290

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

EN1 PubMed Links

Gene Details

Gene

EN1

Gene Name

engrailed homeobox 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001426.3	1966	Missense Mutation	AAA,AGA	K317R	NP_001417.3

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