Product Details

SNP ID
rs200863939
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.X:49038310 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGGCAGGCAGTGGCTGGGCACTTG[C/T]GGGCCCCGGCGGTGGGGTGAGGGCC
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_001282142.1 958 Missense Mutation ACA,GCA T118A NP_001269071.1
NM_006521.5 958 Missense Mutation ACA,GCA T223A NP_006512.2

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