Product Details

SNP ID

rs181120439

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:49030424 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCGGTGCAGGGGGCTGCTGATGGG[A/G]AGCATTCTGGGCAGGTCCCCCCCCT

Phenotype

MIM: 314310

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

TFE3 PubMed Links

Gene Details

Gene

TFE3

Gene Name

transcription factor binding to IGHM enhancer 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001282142.1	1753	Missense Mutation	CCC,TCC	P383S	NP_001269071.1
NM_006521.5	1753	Missense Mutation	CCC,TCC	P488S	NP_006512.2

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