Product Details

SNP ID
rs138117722
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:196764580 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCGGTGCTTTATATAGAACAATAGG[C/T]ATACAAAAGCGTTTGAGCCATTCCG
Phenotype
MIM: 604888
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
GTF3C3 PubMed Links

Gene Details

Gene
GTF3C3
Gene Name
general transcription factor IIIC subunit 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001206774.1 2801 Intron NP_001193703.1
NM_012086.4 2801 Missense Mutation ACC,GCC T882A NP_036218.1
XM_005246965.4 2801 Missense Mutation ACC,GCC T490A XP_005247022.1

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