Product Details

SNP ID

rs144918648

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:29044895 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACACTCCCGAGGAAGCTCCCATGGA[C/G]AAAGCCGGATAATCCGAAAGGCGTA

Phenotype

MIM: 616713

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

PIPOX PubMed Links

Gene Details

Gene

PIPOX

Gene Name

pipecolic acid and sarcosine oxidase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_016518.2	477	Missense Mutation	CAA,GAA	Q51E	NP_057602.2
XM_017024722.1	477	Intron			XP_016880211.1

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