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SNP ID

rs111871923

Assay Type

Functionally tested

NCBI dbSNP Submissions

17

Location

Chr.1:110404014 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTAGAACAGATATCACTCCAGCATG[C/G]TCATCTGACAGGGTCCCGCGGCCTG

Phenotype

MIM: 608521

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

LAMTOR5 PubMed Links

Gene Details

Gene

LAMTOR5

Gene Name

late endosomal/lysosomal adaptor, MAPK and MTOR activator 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006402.2	424	Missense Mutation	GAC,GAG	D122E	NP_006393.2

Gene

LAMTOR5-AS1

Gene Name

LAMTOR5 antisense RNA 1

There are no transcripts associated with this gene.

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