Product Details

SNP ID

rs143266987

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:109818056 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTAGAAAACAAAGAACAAATTGGAA[A/G]AGTGGATGAAATATTTGGACAACTC

Phenotype

MIM: 606468 MIM: 605224

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

GAR1 PubMed Links

Gene Details

Gene

GAR1

Gene Name

GAR1 ribonucleoprotein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018983.3	642	Missense Mutation	AAA,AGA	K112R	NP_061856.1
NM_032993.2	642	Intron			NP_127460.1

Gene

RRH

Gene Name

retinal pigment epithelium-derived rhodopsin homolog

There are no transcripts associated with this gene.

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