Product Details

SNP ID
rs143415747
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:101891288 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACAATGTTAAATGAGATTATTTAAA[A/C]TATGGATTGTACATTCTTCTAATTT
Phenotype
MIM: 607666
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
ANGPTL5 PubMed Links

Gene Details

Gene
ANGPTL5
Gene Name
angiopoietin like 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_178127.4 1328 Nonsense Mutation TAG,TAT *386Y NP_835228.2
XM_011542735.2 1328 Nonsense Mutation TAG,TAT *321Y XP_011541037.1
XM_017017466.1 1328 Nonsense Mutation TAG,TAT *246Y XP_016872955.1

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