Product Details

SNP ID

rs200997202

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:99885571 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TAGGTGTTATAGTAACAGATGATAC[C/T]TTTATTTTTGGAAAGTCCAAGTTTG

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	457	Missense Mutation	AGT,GGT	S63G	NP_001230665.1
NM_021970.3	457	Missense Mutation	AGT,GGT	S70G	NP_068805.1

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