Product Details

SNP ID

rs200146943

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:84232171 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCACTGCAGCAGACAAGCAGCGTG[A/G]GAGGCAGGGCAATGACGATGGCCAC

Phenotype

MIM: 616103

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

LRIT1 PubMed Links

Gene Details

Gene

LRIT1

Gene Name

leucine rich repeat, Ig-like and transmembrane domains 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015613.2	1906	Missense Mutation	CCC,CTC	P543L	NP_056428.1
XM_011539623.2	1906	Missense Mutation	CCC,CTC	P494L	XP_011537925.1
XM_011539626.2	1906	Missense Mutation	CCC,CTC	P348L	XP_011537928.1

Gene

LRIT2

Gene Name

leucine rich repeat, Ig-like and transmembrane domains 2

There are no transcripts associated with this gene.

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