Product Details

SNP ID
rs202167638
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.13:45120716 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAAACAGAACACAGGAGTGTGGCTA[G/A]TCAAGGTAATGTTCGCGAGTCTCCC
Phenotype
MIM: 189969
Polymorphism
G/A, 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_004128.2 253 Missense Mutation ATC,GTC I21V NP_004119.1
XM_011535052.2 253 Missense Mutation ATC,GTC I21V XP_011533354.1
XM_011535053.2 253 Missense Mutation ATC,GTC I21V XP_011533355.1
XM_017020550.1 253 Missense Mutation ATC,GTC I21V XP_016876039.1
XM_017020551.1 253 Intron XP_016876040.1
Gene
LOC101929259
Gene Name
uncharacterized LOC101929259
There are no transcripts associated with this gene.

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