Product Details

SNP ID
rs200187748
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:47953087 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATCTTCTCCAGGCGGGTGTTAAAGT[C/T]GCTGTTGGGGCCTCCAGCGTCAGGC
Phenotype
MIM: 603287
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
PNPO PubMed Links

Gene Details

Gene
PNPO
Gene Name
pyridoxamine 5'-phosphate oxidase
There are no transcripts associated with this gene.

Gene
PRR15L
Gene Name
proline rich 15 like
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_024320.3 428 Missense Mutation AAC,GAC N50D NP_077296.1
XM_005257663.4 428 Missense Mutation AAC,GAC N50D XP_005257720.1
XM_005257664.2 428 Missense Mutation AAC,GAC N50D XP_005257721.1
XM_005257665.1 428 Missense Mutation AAC,GAC N50D XP_005257722.1
XM_005257666.4 428 Missense Mutation AAC,GAC N50D XP_005257723.1

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