Product Details

SNP ID

rs34489008

Assay Type

Functionally tested

NCBI dbSNP Submissions

13

Location

Chr.1:168183911 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTTGGTTACGTATAGATTAGCCGA[C/T]GAATTACATATGCCATCTCTCCCTG

Phenotype

MIM: 611807

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

TIPRL PubMed Links

Gene Details

Gene

TIPRL

Gene Name

TOR signaling pathway regulator

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001031800.2	347	Silent Mutation	GAC,GAT	D38D	NP_001026970.1
NM_152902.4	347	Silent Mutation	GAC,GAT	D38D	NP_690866.1

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