Product Details

SNP ID
rs199651209
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:11679469 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTGCGGGCCAGCTCCTGCAGCTCA[C/G]GTGTCTTCTGCTCATAGAGGGCCTG
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 2588 Intron NP_003489.1
XM_017023741.1 2588 Intron XP_016879230.1
XM_017023742.1 2588 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 2588 Missense Mutation CCT,CGT P895R NP_001290376.1
NM_001324022.1 2588 Missense Mutation CCT,CGT P654R NP_001310951.1
NM_001324024.1 2588 Missense Mutation CCT,CGT P416R NP_001310953.1
NM_001324025.1 2588 Missense Mutation CCT,CGT P416R NP_001310954.1
NM_015914.6 2588 Missense Mutation CCT,CGT P868R NP_056998.4
XM_011522515.2 2588 Missense Mutation CCT,CGT P908R XP_011520817.1
XM_011522516.2 2588 Missense Mutation CCT,CGT P694R XP_011520818.1
XM_017023268.1 2588 Missense Mutation CCT,CGT P907R XP_016878757.1

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