Product Details

SNP ID

rs200716631

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:118842949 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCGGCCTGTGGCGGCTACTCGCTCT[C/T]GTCTTTGTCCTGGACCGTGGTGGTG

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	2184	Missense Mutation	AAG,GAG	K390E	NP_001417.3

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