Product Details

SNP ID

rs3027470

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:49034200 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGTTGCTGACAGTGATGGCTGGTG[T/C]GGCCACGCCTTGACTACTGTACACA

Phenotype

MIM: 314310

Polymorphism

T/C, 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	1228	Missense Mutation	ACA,GCA	T208A	NP_001269071.1
NM_006521.5	1228	Missense Mutation	ACA,GCA	T313A	NP_006512.2

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