Product Details

SNP ID
rs150848799
Assay Type
Functionally tested
NCBI dbSNP Submissions
2
Location
Chr.1:51790637 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTATCCTCACACTCCTTCAGCTTGA[C/T]GAGAGCTGTGACCTGTTCCCACCAA
Phenotype
MIM: 602651 MIM: 606737
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
NRDC PubMed Links

Gene Details

Gene
NRDC
Gene Name
nardilysin convertase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001101662.1 3386 Missense Mutation ATC,GTC I1022V NP_001095132.1
NM_001242361.1 3386 Missense Mutation ATC,GTC I958V NP_001229290.1
NM_002525.2 3386 Missense Mutation ATC,GTC I1090V NP_002516.2
XM_005270903.1 3386 Missense Mutation ATC,GTC I785V XP_005270960.1
XM_011541522.1 3386 Missense Mutation ATC,GTC I980V XP_011539824.1
XM_011541523.1 3386 Missense Mutation ATC,GTC I890V XP_011539825.1
XM_011541525.2 3386 Missense Mutation ATC,GTC I785V XP_011539827.1
XM_017001375.1 3386 Missense Mutation ATC,GTC I890V XP_016856864.1
Gene
OSBPL9
Gene Name
oxysterol binding protein like 9
There are no transcripts associated with this gene.

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