Product Details

SNP ID
rs147004947
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.13:45194472 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CACCAACGTTGAGGGTCATCAGTGT[A/G]GATTTGCAGTTCTTTCCTTGATCAG
Phenotype
MIM: 189969
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
GTF2F2 PubMed Links

Gene Details

Gene
GTF2F2
Gene Name
general transcription factor IIF subunit 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_004128.2 500 Intron NP_004119.1
XM_011535052.2 500 Intron XP_011533354.1
XM_011535053.2 500 Intron XP_011533355.1
XM_017020550.1 500 Intron XP_016876039.1
XM_017020551.1 500 Intron XP_016876040.1
Gene
KCTD4
Gene Name
potassium channel tetramerization domain containing 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_198404.2 500 Silent Mutation TCC,TCT S32S NP_940686.2

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