Product Details

SNP ID
rs144284900
Assay Type
Functionally tested
NCBI dbSNP Submissions
11
Location
Chr.1:62598744 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TAGCATCAAAGACCTTCTCCAGACC[A/G]TGGAAGACCAATATAAACAATTAAA
Phenotype
MIM: 604774 MIM: 615730
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
ANGPTL3 PubMed Links

Gene Details

Gene
ANGPTL3
Gene Name
angiopoietin like 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_014495.3 624 Missense Mutation ATG,GTG M182V NP_055310.1
Gene
DOCK7
Gene Name
dedicator of cytokinesis 7
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001271999.1 624 Intron NP_001258928.1
NM_001272000.1 624 Intron NP_001258929.1
NM_001272001.1 624 Intron NP_001258930.1
NM_001272002.1 624 Intron NP_001258931.1
NM_033407.3 624 Intron NP_212132.2
XM_005271292.2 624 Intron XP_005271349.1
XM_011542326.2 624 Intron XP_011540628.1
XM_011542327.2 624 Intron XP_011540629.1
XM_011542328.2 624 Intron XP_011540630.1
XM_011542330.2 624 Intron XP_011540632.1
XM_017002639.1 624 Intron XP_016858128.1
XM_017002640.1 624 Intron XP_016858129.1

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