Product Details

SNP ID
rs201227691
Assay Type
Functionally tested
NCBI dbSNP Submissions
3
Location
Chr.1:51791601 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACTTGTATTTGGTTGCCTGAGTCCC[C/G]ACAGTGACAGAAAATCCTAGAATCC
Phenotype
MIM: 602651 MIM: 606737
Polymorphism
C/G, Transversion 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 3259 Silent Mutation GTC,GTG V979V NP_001095132.1
NM_001242361.1 3259 Silent Mutation GTC,GTG V915V NP_001229290.1
NM_002525.2 3259 Silent Mutation GTC,GTG V1047V NP_002516.2
XM_005270903.1 3259 Silent Mutation GTC,GTG V742V XP_005270960.1
XM_011541522.1 3259 Silent Mutation GTC,GTG V937V XP_011539824.1
XM_011541523.1 3259 Silent Mutation GTC,GTG V847V XP_011539825.1
XM_011541525.2 3259 Silent Mutation GTC,GTG V742V XP_011539827.1
XM_017001375.1 3259 Silent Mutation GTC,GTG V847V XP_016856864.1
Gene
OSBPL9
Gene Name
oxysterol binding protein like 9
There are no transcripts associated with this gene.

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