Product Details

SNP ID
rs143038752
Assay Type
Functionally tested
NCBI dbSNP Submissions
1
Location
Chr.1:231529350 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TAATTCATCTTCACCCGTGATGTTG[A/G]CCTTTAAATGTAAGTTCTCTGCAAT
Phenotype
MIM: 602964
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
TSNAX PubMed Links

Gene Details

Gene
TSNAX
Gene Name
translin associated factor X
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_005999.2 270 Missense Mutation ACC,GCC T38A NP_005990.1
Gene
TSNAX-DISC1
Gene Name
TSNAX-DISC1 readthrough (NMD candidate)
There are no transcripts associated with this gene.

View Full Product Details