Product Details

SNP ID

rs200572227

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:47953007 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGCTCTCACTTTCTTCTTCTCCTT[A/G]AAGCGTCCTGAGTTGGAGACCTTGA

Phenotype

MIM: 603287

Polymorphism

A/G, 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	508	Silent Mutation	TTC,TTT	F76F	NP_077296.1
XM_005257663.4	508	Silent Mutation	TTC,TTT	F76F	XP_005257720.1
XM_005257664.2	508	Silent Mutation	TTC,TTT	F76F	XP_005257721.1
XM_005257665.1	508	Silent Mutation	TTC,TTT	F76F	XP_005257722.1
XM_005257666.4	508	Silent Mutation	TTC,TTT	F76F	XP_005257723.1

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