Product Details

SNP ID
rs141047417
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:10092642 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCGGCCTTCCTGAGAGAATATGCCC[C/T]ACCACGAAACTCAGCCCAGTAGACA
Phenotype
MIM: 609336 MIM: 616808
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ANGPTL6 PubMed Links

Gene Details

Gene
ANGPTL6
Gene Name
angiopoietin like 6
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001321411.1 1581 Missense Mutation AGG,GGG R454G NP_001308340.1
NM_031917.2 1581 Missense Mutation AGG,GGG R454G NP_114123.2
XM_005260091.3 1581 Missense Mutation AGG,GGG R535G XP_005260148.1
XM_011528347.2 1581 Missense Mutation AGG,GGG R454G XP_011526649.1
XM_011528348.2 1581 Missense Mutation AGG,GGG R521G XP_011526650.1
XM_011528349.2 1581 Missense Mutation AGG,GGG R521G XP_011526651.1
XM_011528350.2 1581 Missense Mutation AGG,GGG R454G XP_011526652.1
XM_017027347.1 1581 Missense Mutation AGG,GGG R454G XP_016882836.1
Gene
C19orf66
Gene Name
chromosome 19 open reading frame 66
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001308277.1 1581 UTR 3 NP_001295206.1
NM_018381.3 1581 UTR 3 NP_060851.2
XM_011528121.1 1581 UTR 3 XP_011526423.1
XM_011528122.1 1581 Intron XP_011526424.1
XM_017026934.1 1581 UTR 3 XP_016882423.1

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