Product Details

SNP ID
rs200058074
Assay Type
Functionally tested
NCBI dbSNP Submissions
14
Location
Chr.1:11192300 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATCTACGACTGCTCTTCCCTCTACC[A/G]GAAGAACTACCGCATCTCTGGAGTG
Phenotype
MIM: 601231
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
ANGPTL7 PubMed Links

Gene Details

Gene
ANGPTL7
Gene Name
angiopoietin like 7
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_021146.3 698 Missense Mutation CAG,CGG Q136R NP_066969.1
XM_017000004.1 698 Missense Mutation CAG,CGG Q136R XP_016855493.1
Gene
MTOR
Gene Name
mechanistic target of rapamycin
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_004958.3 698 Intron NP_004949.1
XM_005263438.2 698 Intron XP_005263495.1
XM_011541166.2 698 Intron XP_011539468.1
XM_017000900.1 698 Intron XP_016856389.1
XM_017000901.1 698 Intron XP_016856390.1
XM_017000902.1 698 Intron XP_016856391.1

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