Product Details

SNP ID
rs141953164
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:30578952 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTGGAAGTAATGTCAGAGTAATCC[C/T]TCAGCACTCCAGCCAAGTGTTCGTT
Phenotype
MIM: 189964 MIM: 601558
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
GTF2E2 PubMed Links

Gene Details

Gene
GTF2E2
Gene Name
general transcription factor IIE subunit 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_002095.4 958 Missense Mutation AAG,AGG K282R NP_002086.1
XM_011544509.2 958 Intron XP_011542811.1
XM_011544510.1 958 Intron XP_011542812.1
XM_017013363.1 958 Missense Mutation AAG,AGG K282R XP_016868852.1
XM_017013364.1 958 Missense Mutation AAG,AGG K282R XP_016868853.1
Gene
RBPMS
Gene Name
RNA binding protein with multiple splicing
There are no transcripts associated with this gene.

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