Product Details

SNP ID
rs182946116
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.10:84232000 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGAAAGTCCACACTGGAACGAGCT[A/G]AGAGAAGCCTGTCAGCCTCGCTGAC
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 2077 Missense Mutation TCA,TTA S600L NP_056428.1
XM_011539623.2 2077 Missense Mutation TCA,TTA S551L XP_011537925.1
XM_011539626.2 2077 Missense Mutation TCA,TTA S405L 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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