Product Details

SNP ID
rs148123121
Assay Type
Functionally tested
NCBI dbSNP Submissions
5
Location
Chr.1:160276996 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AACGATTATTTTTGAGCAGCAGAAA[A/C]GGAAGGCTAGAGAAATGCTAGAGAT
Phenotype
MIM: 600279
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
PEX19 PubMed Links

Gene Details

Gene
PEX19
Gene Name
peroxisomal biogenesis factor 19
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001193644.1 3482 UTR 3 NP_001180573.1
NM_002857.3 3482 UTR 3 NP_002848.1

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