Product Details

SNP ID

rs190729581

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:74239830 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGGGGCTCCCTGGCTTCTACACGC[A/T]GCCCACCTTCCTGGAAGTGCTGTCC

Phenotype

MIM: 142993

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

VSX2 PubMed Links

Gene Details

Gene

VSX2

Gene Name

visual system homeobox 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_182894.2	359	Missense Mutation	CAG,CTG	Q90L	NP_878314.1

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