Product Details

SNP ID

rs2940315

Assay Type

Functionally tested

NCBI dbSNP Submissions

44

Location

Chr.1:13475905 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TCTTTGTTGGGTGCGCACCTCTGGA[A/G]GCACTGCACCACAGTGGCCAGGAAG

Phenotype

MIM: 615212

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

LRRC38 PubMed Links

Gene Details

Gene

LRRC38

Gene Name

leucine rich repeat containing 38

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001010847.1	980	Missense Mutation	CTC,TTC	L276F	NP_001010847.1

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