Product Details

SNP ID

rs11546701

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:99885639 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAGGGCAAAAGTGGATAAGAAACCA[G/T]GTCGCAAAGCATGCTCTGGAGCATT

Phenotype

MIM: 603296

Polymorphism

G/T, Transversion 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	389	Missense Mutation	CAT,CCT	H40P	NP_001230665.1
NM_021970.3	389	Missense Mutation	CAT,CCT	H47P	NP_068805.1

View Full Product Details