Product Details

SNP ID
rs202093946
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:49290615 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGGGGGAGGCTCACGGTGCTTGAG[G/T]CCCAGGACATGTAGGTGATCGGCTT
Phenotype
MIM: 607972
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
SLC6A16 PubMed Links

Gene Details

Gene
SLC6A16
Gene Name
solute carrier family 6 member 16
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_014037.2 2181 Missense Mutation GAC,GCC D644A NP_054756.2
XM_005258820.2 2181 Missense Mutation GAC,GCC D644A XP_005258877.1
XM_006723168.3 2181 Missense Mutation GAC,GCC D644A XP_006723231.1
XM_011526859.2 2181 Missense Mutation GAC,GCC D689A XP_011525161.2
XM_011526860.2 2181 Missense Mutation GAC,GCC D666A XP_011525162.1
XM_011526861.2 2181 Missense Mutation GAC,GCC D497A XP_011525163.1
XM_017026712.1 2181 Missense Mutation GAC,GCC D726A XP_016882201.1

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