Product Details

SNP ID

rs139561129

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:119873907 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGACAGCAGCACCAGCGGGAGTGGC[C/G]GGGCGCAGCAAAGGGAGCTGGAGCG

Phenotype

MIM: 612974

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

DEPTOR PubMed Links

Gene Details

Gene

DEPTOR

Gene Name

DEP domain containing MTOR-interacting protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001283012.1	253	Missense Mutation	CGG,GGG	R21G	NP_001269941.1
NM_022783.3	253	Missense Mutation	CGG,GGG	R21G	NP_073620.2
XM_017013735.1	253	Intron			XP_016869224.1

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