Product Details

SNP ID
rs200017371
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.14:52432389 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAACCAATTACTTCTATTCCAATGC[C/T]TTATTCTCAGAGTTTCAATCGGTTC
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 2827 Missense Mutation AAG,AGG K793R NP_001153519.1
NM_020784.2 2827 Missense Mutation AAG,AGG K798R NP_065835.2
XM_017021505.1 2827 Intron XP_016876994.1

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