Product Details

SNP ID
rs147848740
Assay Type
Functionally tested
NCBI dbSNP Submissions
2
Location
Chr.1:161160665 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AATGCCCCAGGCCTCTGAGCACCGC[C/G]TGGGCCGTACCCGAGAGCCACCTGT
Phenotype
MIM: 600923 MIM: 610554 MIM: 604729
Polymorphism
C/G, 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_001014443.2 261 Missense Mutation CTG,GTG L9V NP_001014443.1
NM_001319848.1 261 Missense Mutation CTG,GTG L9V NP_001306777.1
NM_012475.4 261 Missense Mutation CTG,GTG L9V NP_036607.3
XM_011509414.1 261 Missense Mutation CTG,GTG L38V XP_011507716.1
XM_017001036.1 261 Missense Mutation CTG,GTG L38V XP_016856525.1
XM_017001037.1 261 Missense Mutation CTG,GTG L9V XP_016856526.1
XM_017001038.1 261 Missense Mutation CTG,GTG L9V XP_016856527.1
XM_017001039.1 261 Missense Mutation CTG,GTG L9V XP_016856528.1
XM_017001040.1 261 Missense Mutation CTG,GTG L38V XP_016856529.1
XM_017001041.1 261 UTR 5 XP_016856530.1
XM_017001042.1 261 Intron XP_016856531.1

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