Product Details

SNP ID
rs150947325
Assay Type
Functionally tested
NCBI dbSNP Submissions
4
Location
Chr.1:46219721 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGGCTTACCTGCGAGCCATCGATG[G/T]GAAGATCCTGCAGCAGCTGGTGACC
Phenotype
MIM: 616129 MIM: 606822
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
LURAP1 PubMed Links

Gene Details

Gene
LURAP1
Gene Name
leucine rich adaptor protein 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001013615.2 314 Missense Mutation GGG,GTG G74V NP_001013633.1
Gene
POMGNT1
Gene Name
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001243766.1 314 UTR 5 NP_001230695.1
NM_001290129.1 314 Intron NP_001277058.1
NM_001290130.1 314 Intron NP_001277059.1
NM_017739.3 314 Intron NP_060209.3
XM_005271010.1 314 Intron XP_005271067.1
XM_006710755.1 314 Intron XP_006710818.1
XM_006710756.1 314 Intron XP_006710819.1
XM_011541760.2 314 Intron XP_011540062.1
XM_017001690.1 314 Intron XP_016857179.1

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