Product Details

SNP ID
rs200193661
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:49294396 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGAAACTGAGTCTCTATGTTGCACT[C/T]AGTCACCTCGCGGAGAACCATGCTT
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 1637 Missense Mutation AAG,GAG K463E NP_054756.2
XM_005258820.2 1637 Missense Mutation AAG,GAG K463E XP_005258877.1
XM_006723168.3 1637 Missense Mutation AAG,GAG K463E XP_006723231.1
XM_011526859.2 1637 Missense Mutation AAG,GAG K508E XP_011525161.2
XM_011526860.2 1637 Missense Mutation AAG,GAG K485E XP_011525162.1
XM_011526861.2 1637 Missense Mutation AAG,GAG K316E XP_011525163.1
XM_017026712.1 1637 Missense Mutation AAG,GAG K545E XP_016882201.1

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