Product Details

SNP ID

rs149555128

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:51790975 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TAGAAAGAAACTCTTCTATCTTCTT[A/G]TCAACAACTTCAGAACTGAAACAAA

Phenotype

MIM: 602651 MIM: 606737

Polymorphism

A/G, 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	3298	Silent Mutation	GAC,GAT	D992D	NP_001095132.1
NM_001242361.1	3298	Silent Mutation	GAC,GAT	D928D	NP_001229290.1
NM_002525.2	3298	Silent Mutation	GAC,GAT	D1060D	NP_002516.2
XM_005270903.1	3298	Silent Mutation	GAC,GAT	D755D	XP_005270960.1
XM_011541522.1	3298	Silent Mutation	GAC,GAT	D950D	XP_011539824.1
XM_011541523.1	3298	Silent Mutation	GAC,GAT	D860D	XP_011539825.1
XM_011541525.2	3298	Silent Mutation	GAC,GAT	D755D	XP_011539827.1
XM_017001375.1	3298	Silent Mutation	GAC,GAT	D860D	XP_016856864.1

Gene

OSBPL9

Gene Name

oxysterol binding protein like 9

There are no transcripts associated with this gene.

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