Product Details

SNP ID

rs182903825

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:47952991 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGTTCTCTGCCAGCGTGGCTCTCA[A/C]TTTCTTCTTCTCCTTGAAGCGTCCT

Phenotype

MIM: 603287

Polymorphism

A/C, Transversion 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	524	Missense Mutation	GTG,TTG	V82L	NP_077296.1
XM_005257663.4	524	Missense Mutation	GTG,TTG	V82L	XP_005257720.1
XM_005257664.2	524	Missense Mutation	GTG,TTG	V82L	XP_005257721.1
XM_005257665.1	524	Missense Mutation	GTG,TTG	V82L	XP_005257722.1
XM_005257666.4	524	Missense Mutation	GTG,TTG	V82L	XP_005257723.1

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