Product Details

SNP ID

rs199679824

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:84247693 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTACTGGTGCTGAGCTTGGCTCTTG[C/T]GGACAGTGGGATCAGCCTGAATGCC

Phenotype

MIM: 616103 MIM: 600342

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

LRIT1 PubMed Links

Gene Details

Gene

LRIT1

Gene Name

leucine rich repeat, Ig-like and transmembrane domains 1

There are no transcripts associated with this gene.

Gene

RGR

Gene Name

retinal G protein coupled receptor

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001012720.1	220	Missense Mutation	GCG,GTG	A61V	NP_001012738.1
NM_001012722.1	220	Missense Mutation	GCG,GTG	A61V	NP_001012740.1
NM_002921.3	220	Missense Mutation	GCG,GTG	A61V	NP_002912.2

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