Product Details

SNP ID
rs146282548
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:10092756 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCACAGGCATGGTACCACCAGCCTC[C/G]CCGCTGGTACAGGGCACAGTTACCT
Phenotype
MIM: 609336 MIM: 616808
Polymorphism
C/G, Transversion 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 1467 Missense Mutation CGA,GGA R416G NP_001308340.1
NM_031917.2 1467 Missense Mutation CGA,GGA R416G NP_114123.2
XM_005260091.3 1467 Missense Mutation CGA,GGA R497G XP_005260148.1
XM_011528347.2 1467 Missense Mutation CGA,GGA R416G XP_011526649.1
XM_011528348.2 1467 Missense Mutation CGA,GGA R483G XP_011526650.1
XM_011528349.2 1467 Missense Mutation CGA,GGA R483G XP_011526651.1
XM_011528350.2 1467 Missense Mutation CGA,GGA R416G XP_011526652.1
XM_017027347.1 1467 Missense Mutation CGA,GGA R416G 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 1467 UTR 3 NP_001295206.1
NM_018381.3 1467 UTR 3 NP_060851.2
XM_011528121.1 1467 UTR 3 XP_011526423.1
XM_011528122.1 1467 Intron XP_011526424.1
XM_017026934.1 1467 UTR 3 XP_016882423.1

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