Product Details

SNP ID
rs143389567
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:196770004 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTATACAGAAGCTATAGAGAGGTT[C/T]GTCAGGGTGAGTGCGAAAGGCTTGC
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 2453 Intron NP_001193703.1
NM_012086.4 2453 Missense Mutation AAA,GAA K766E NP_036218.1
XM_005246965.4 2453 Missense Mutation AAA,GAA K374E XP_005247022.1

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