Product Details

SNP ID

rs190478032

Assay Type

Functionally tested

NCBI dbSNP Submissions

5

Location

Chr.1:51789588 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCACATGAACGCTGAGCATTTTAC[A/T]TCCTGGCCCTCTATGGGCCTTGAAC

Phenotype

MIM: 602651 MIM: 606737

Polymorphism

A/T, 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	3560	Missense Mutation	AGT,TGT	S1080C	NP_001095132.1
NM_001242361.1	3560	Missense Mutation	AGT,TGT	S1016C	NP_001229290.1
NM_002525.2	3560	Missense Mutation	AGT,TGT	S1148C	NP_002516.2
XM_005270903.1	3560	Missense Mutation	AGT,TGT	S843C	XP_005270960.1
XM_011541522.1	3560	Missense Mutation	AGT,TGT	S1038C	XP_011539824.1
XM_011541523.1	3560	Missense Mutation	AGT,TGT	S948C	XP_011539825.1
XM_011541525.2	3560	Missense Mutation	AGT,TGT	S843C	XP_011539827.1
XM_017001375.1	3560	Missense Mutation	AGT,TGT	S948C	XP_016856864.1

Gene

OSBPL9

Gene Name

oxysterol binding protein like 9

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_024586.5	3560	Intron			NP_078862.4
NM_148904.3	3560	Intron			NP_683702.1
NM_148905.3	3560	Intron			NP_683703.1
NM_148906.2	3560	Intron			NP_683704.2
NM_148907.2	3560	Intron			NP_683705.1
NM_148908.3	3560	Intron			NP_683706.3
NM_148909.3	3560	Intron			NP_683707.3
XM_006710318.2	3560	Intron			XP_006710381.1
XM_006710320.3	3560	Intron			XP_006710383.1
XM_006710321.2	3560	Intron			XP_006710384.1
XM_006710322.3	3560	Intron			XP_006710385.1
XM_006710323.2	3560	Intron			XP_006710386.1
XM_006710324.3	3560	Intron			XP_006710387.1
XM_006710325.3	3560	Intron			XP_006710388.1
XM_006710326.2	3560	Intron			XP_006710389.1
XM_011540599.2	3560	Intron			XP_011538901.1
XM_011540600.2	3560	Intron			XP_011538902.1
XM_011540601.2	3560	Intron			XP_011538903.1
XM_011540602.2	3560	Intron			XP_011538904.1
XM_011540603.2	3560	Intron			XP_011538905.1
XM_011540604.2	3560	Intron			XP_011538906.1
XM_017000218.1	3560	Intron			XP_016855707.1
XM_017000219.1	3560	Intron			XP_016855708.1
XM_017000220.1	3560	Intron			XP_016855709.1
XM_017000221.1	3560	Intron			XP_016855710.1
XM_017000222.1	3560	Intron			XP_016855711.1
XM_017000223.1	3560	Intron			XP_016855712.1
XM_017000224.1	3560	Intron			XP_016855713.1
XM_017000225.1	3560	Intron			XP_016855714.1

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