Product Details

SNP ID

rs112838598

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:216039318 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTAAAGGTCTCCTTCATCTTTTTG[A/G]CAACAGAAAGGTCCCCTGCTCCCTT

Phenotype

MIM: 605843

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

PECR PubMed Links

Gene Details

Gene

PECR

Gene Name

peroxisomal trans-2-enoyl-CoA reductase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018441.5	944	Missense Mutation	GCC,GTC	A290V	NP_060911.2
XM_011511478.2	944	Missense Mutation	GCC,GTC	A144V	XP_011509780.1

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