Product Details

SNP ID
rs147453919
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.3:120742872 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTCATGATTTCTTCTTCCTTTCGCT[C/G]CCTCTTAACTATCCTCCCCTAATGA
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 56 Intron NP_005504.2
XM_011512744.2 56 Intron XP_011511046.1
XM_011512745.2 56 UTR 5 XP_011511047.1
Gene
RABL3
Gene Name
RAB, member of RAS oncogene family like 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_173825.3 56 Intron NP_776186.2
XM_006713595.2 56 Intron XP_006713658.1
XM_017006227.1 56 Intron XP_016861716.1
XM_017006228.1 56 Intron XP_016861717.1

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