Product Details

SNP ID

rs141947949

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.19:49583592 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCAGAGCTTCCTGAGTAGCCATACC[C/T]GGATTCCAAGAGCCAACCACTGGGA

Phenotype

MIM: 616759 MIM: 616633 MIM: 604429

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

NOSIP PubMed Links

Additional Information

For this assay, SNP(s) [rs543865817] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

NOSIP

Gene Name

nitric oxide synthase interacting protein

There are no transcripts associated with this gene.

Gene

PRR12

Gene Name

proline rich 12

There are no transcripts associated with this gene.

Gene

PRRG2

Gene Name

proline rich and Gla domain 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000951.2	468	Missense Mutation	CGG,TGG	R46W	NP_000942.1
NM_001316335.1	468	Missense Mutation	CGG,TGG	R23W	NP_001303264.1
XM_006723286.2	468	Missense Mutation	CGG,TGG	R46W	XP_006723349.1
XM_011527124.1	468	Missense Mutation	CGG,TGG	R23W	XP_011525426.1

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