Product Details

SNP ID
rs200823180
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:49293272 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACAGCCATGGTTTCAAATACGACAA[C/T]GACGATGATGGGGAAGACTATCCAG
Phenotype
MIM: 607972
Polymorphism
C/T, Transition 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 1979 Missense Mutation ATT,GTT I577V NP_054756.2
XM_005258820.2 1979 Missense Mutation ATT,GTT I577V XP_005258877.1
XM_006723168.3 1979 Missense Mutation ATT,GTT I577V XP_006723231.1
XM_011526859.2 1979 Missense Mutation ATT,GTT I622V XP_011525161.2
XM_011526860.2 1979 Missense Mutation ATT,GTT I599V XP_011525162.1
XM_011526861.2 1979 Missense Mutation ATT,GTT I430V XP_011525163.1
XM_017026712.1 1979 Missense Mutation ATT,GTT I659V XP_016882201.1

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