Product Details

SNP ID
rs138787882
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:11679470 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTGCGGGCCAGCTCCTGCAGCTCAC[C/G]TGTCTTCTGCTCATAGAGGGCCTGC
Phenotype
MIM: 603032
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
SNN PubMed Links

Gene Details

Gene
SNN
Gene Name
stannin
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_003498.5 2587 Intron NP_003489.1
XM_017023741.1 2587 Intron XP_016879230.1
XM_017023742.1 2587 Intron XP_016879231.1
Gene
TXNDC11
Gene Name
thioredoxin domain containing 11
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001303447.1 2587 Missense Mutation CGT,GGT R895G NP_001290376.1
NM_001324022.1 2587 Missense Mutation CGT,GGT R654G NP_001310951.1
NM_001324024.1 2587 Missense Mutation CGT,GGT R416G NP_001310953.1
NM_001324025.1 2587 Missense Mutation CGT,GGT R416G NP_001310954.1
NM_015914.6 2587 Missense Mutation CGT,GGT R868G NP_056998.4
XM_011522515.2 2587 Missense Mutation CGT,GGT R908G XP_011520817.1
XM_011522516.2 2587 Missense Mutation CGT,GGT R694G XP_011520818.1
XM_017023268.1 2587 Missense Mutation CGT,GGT R907G XP_016878757.1

View Full Product Details