Product Details

SNP ID
rs112418743
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.12:191141 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGAGGGCCCAAAGTTCCGGCCAGCA[C/T]TGCCATCCAAGCAGGGATGTTGCTT
Phenotype
MIM: 603080
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
SLC6A12 PubMed Links

Gene Details

Gene
SLC6A12
Gene Name
solute carrier family 6 member 12
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001122847.2 2532 Missense Mutation AAT,AGT N591S NP_001116319.1
NM_001122848.2 2532 Missense Mutation AAT,AGT N591S NP_001116320.1
NM_001206931.1 2532 Missense Mutation AAT,AGT N591S NP_001193860.1
NM_003044.4 2532 Missense Mutation AAT,AGT N591S NP_003035.3
XM_005253747.4 2532 Intron XP_005253804.1
XM_005253748.4 2532 UTR 3 XP_005253805.1
XM_006719005.3 2532 Intron XP_006719068.1
XM_011521010.1 2532 Missense Mutation AAT,AGT N591S XP_011519312.1
XM_017019841.1 2532 Missense Mutation AAT,AGT N403S XP_016875330.1

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