Product Details

SNP ID

rs116464338

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:47941561 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GACTTAGGACCTGTTAGCTTGGTTG[A/G]GCGACTGGCAAATCCTTCCTTCCCC

Phenotype

MIM: 603287 MIM: 601801

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

PNPO PubMed Links

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	38	UTR 5			NP_060599.1
XM_005257500.3	38	Intron			XP_005257557.1
XM_011524968.2	38	Intron			XP_011523270.1
XM_017024813.1	38	UTR 5			XP_016880302.1

Gene

SP2

Gene Name

Sp2 transcription factor

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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