Product Details

SNP ID
rs202098083
Assay Type
Functionally Tested
NCBI dbSNP Submissions
6
Location
Chr.1:178852817 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTCACTTTCAGGTTCCAGACGAAAG[C/G]TGCTGTATTCTGCATAGACTTTTTT
Phenotype
MIM: 603874
Polymorphism
C/G, Transversion Substitution
Allele Nomenclature
Literature Links
ANGPTL1 PubMed Links

Gene Details

Gene
ANGPTL1
Gene Name
angiopoietin like 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_004673.3 1630 Missense Mutation ACC,AGC T385S NP_004664.1
XM_005245577.2 1630 Missense Mutation ACC,AGC T385S XP_005245634.1
Gene
RALGPS2
Gene Name
Ral GEF with PH domain and SH3 binding motif 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001286247.1 1630 Intron NP_001273176.1
NM_152663.4 1630 Intron NP_689876.2
XM_006711410.3 1630 Intron XP_006711473.1
XM_006711411.3 1630 Intron XP_006711474.1
XM_011509688.1 1630 Intron XP_011507990.1
XM_017001591.1 1630 Intron XP_016857080.1

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