Product Details

SNP ID

rs142370390

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:49030549 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGAAGTCGTGGCCAAGGAAAGCAGC[C/T]CTGGAGTGGGAGGTACTGGCAGGCC

Phenotype

MIM: 314310

Polymorphism

C/T, 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	1628	Missense Mutation	GAG,GGG	E341G	NP_001269071.1
NM_006521.5	1628	Missense Mutation	GAG,GGG	E446G	NP_006512.2

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