Product Details

SNP ID
rs201446017
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.14:52432383 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTCTTTAAACCAATTACTTCTATTC[C/T]AATGCTTTATTCTCAGAGTTTCAAT
Phenotype
MIM: 616179
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
TXNDC16 PubMed Links

Gene Details

Gene
TXNDC16
Gene Name
thioredoxin domain containing 16
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001160047.1 2833 Nonsense Mutation TAG,TGG *795W NP_001153519.1
NM_020784.2 2833 Nonsense Mutation TAG,TGG *800W NP_065835.2
XM_017021505.1 2833 Intron XP_016876994.1

View Full Product Details