Product Details

SNP ID
rs191180673
Assay Type
Functionally tested
NCBI dbSNP Submissions
6
Location
Chr.1:161160998 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAAGTCTGTGAGCAGTGGGGACTTG[C/T]GTCCAATGGGGATTGCCTTGGGAGG
Phenotype
MIM: 600923 MIM: 610554 MIM: 604729
Polymorphism
C/T, Transition 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_001014443.2 594 Missense Mutation CGT,TGT R120C NP_001014443.1
NM_001319848.1 594 Missense Mutation CGT,TGT R120C NP_001306777.1
NM_012475.4 594 Missense Mutation CGT,TGT R120C NP_036607.3
XM_011509414.1 594 Missense Mutation CGT,TGT R149C XP_011507716.1
XM_017001036.1 594 Missense Mutation CGT,TGT R149C XP_016856525.1
XM_017001037.1 594 Missense Mutation CGT,TGT R120C XP_016856526.1
XM_017001038.1 594 Missense Mutation CGT,TGT R120C XP_016856527.1
XM_017001039.1 594 Missense Mutation CGT,TGT R120C XP_016856528.1
XM_017001040.1 594 Missense Mutation CGT,TGT R149C XP_016856529.1
XM_017001041.1 594 Intron XP_016856530.1
XM_017001042.1 594 Intron XP_016856531.1

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