Product Details

SNP ID

rs145461623

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.17:47943334 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTGAGGAGACTCATCTGACCTCCC[G/T]TGACCCAGTGAAACAGTTTGCTGCC

Phenotype

MIM: 603287

Polymorphism

G/T, Transversion Substitution

Allele Nomenclature

Literature Links

PNPO PubMed Links

Additional Information

For this assay, SNP(s) [rs11079804] are located under a probe 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

PNPO

Gene Name

pyridoxamine 5'-phosphate oxidase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018129.3	510	Missense Mutation	CGT,CTT	R56L	NP_060599.1
XM_005257500.3	510	UTR 5			XP_005257557.1
XM_011524968.2	510	Intron			XP_011523270.1
XM_017024813.1	510	UTR 5			XP_016880302.1

Gene

PRR15L

Gene Name

proline rich 15 like

There are no transcripts associated with this gene.

Gene

SP2-AS1

Gene Name

SP2 antisense RNA 1

There are no transcripts associated with this gene.

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