Product Details

SNP ID

rs199578603

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:99885573 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGTGTTATAGTAACAGATGATACTT[C/T]TATTTTTGGAAAGTCCAAGTTTGCT

Phenotype

MIM: 603296

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

LAMTOR3 PubMed Links

Gene Details

Gene

LAMTOR3

Gene Name

late endosomal/lysosomal adaptor, MAPK and MTOR activator 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001243736.1	455	Missense Mutation	AAA,AGA	K62R	NP_001230665.1
NM_021970.3	455	Missense Mutation	AAA,AGA	K69R	NP_068805.1

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