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SNP ID

rs146072078

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:120750703 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGTGAAAGAGGAGGATATGCTGGAG[C/G]TGCTCAAGTTTGATCGGAAGCAACT

Phenotype

MIM: 189962

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

GTF2E1 PubMed Links

Gene Details

Gene

GTF2E1

Gene Name

general transcription factor IIE subunit 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005513.2	336	Missense Mutation	CTG,GTG	L51V	NP_005504.2
XM_011512744.2	336	Missense Mutation	CTG,GTG	L51V	XP_011511046.1
XM_011512745.2	336	Missense Mutation	CTG,GTG	L51V	XP_011511047.1

Gene

RABL3

Gene Name

RAB, member of RAS oncogene family like 3

There are no transcripts associated with this gene.

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