Product Details

SNP ID
rs201383567
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:191130 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCCTTGTTGGGGAGGGCCCAAAGT[G/T]CCGGCCAGCACTGCCATCCAAGCAG
Phenotype
MIM: 603080
Polymorphism
G/T, Transversion 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 2543 Missense Mutation AAC,CAC N595H NP_001116319.1
NM_001122848.2 2543 Missense Mutation AAC,CAC N595H NP_001116320.1
NM_001206931.1 2543 Missense Mutation AAC,CAC N595H NP_001193860.1
NM_003044.4 2543 Missense Mutation AAC,CAC N595H NP_003035.3
XM_005253747.4 2543 Intron XP_005253804.1
XM_005253748.4 2543 UTR 3 XP_005253805.1
XM_006719005.3 2543 Intron XP_006719068.1
XM_011521010.1 2543 Missense Mutation AAC,CAC N595H XP_011519312.1
XM_017019841.1 2543 Missense Mutation AAC,CAC N407H XP_016875330.1

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