Product Details

SNP ID
rs186717254
Assay Type
Functionally tested
NCBI dbSNP Submissions
6
Location
Chr.1:161160920 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCATGGGGTTCCCCTGCCTGGCTCA[A/C]CACCCCCAACAGTGGCTTTGCCTCT
Phenotype
MIM: 600923 MIM: 610554 MIM: 604729
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
PPOX PubMed Links

Gene Details

Gene
PPOX
Gene Name
protoporphyrinogen oxidase
There are no transcripts associated with this gene.

Gene
UFC1
Gene Name
ubiquitin-fold modifier conjugating enzyme 1
There are no transcripts associated with this gene.

Gene
USP21
Gene Name
ubiquitin specific peptidase 21
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001014443.2 516 Missense Mutation ACA,CCA T94P NP_001014443.1
NM_001319848.1 516 Missense Mutation ACA,CCA T94P NP_001306777.1
NM_012475.4 516 Missense Mutation ACA,CCA T94P NP_036607.3
XM_011509414.1 516 Missense Mutation ACA,CCA T123P XP_011507716.1
XM_017001036.1 516 Missense Mutation ACA,CCA T123P XP_016856525.1
XM_017001037.1 516 Missense Mutation ACA,CCA T94P XP_016856526.1
XM_017001038.1 516 Missense Mutation ACA,CCA T94P XP_016856527.1
XM_017001039.1 516 Missense Mutation ACA,CCA T94P XP_016856528.1
XM_017001040.1 516 Missense Mutation ACA,CCA T123P XP_016856529.1
XM_017001041.1 516 UTR 5 XP_016856530.1
XM_017001042.1 516 Intron XP_016856531.1

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