Product Details

SNP ID

rs3813616

Assay Type

Functionally tested

NCBI dbSNP Submissions

12

Location

Chr.1:161161029 on Build GRCh38

Set Membership

JSNP

Context Sequence [VIC/FAM]

ATGGGGATTGCCTTGGGAGGGCACC[A/G]TGGCACCGGAGAGCTTGGGGCTGCA

Phenotype

MIM: 600923 MIM: 610554 MIM: 604729

Polymorphism

A/G, 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	625	Missense Mutation	CAT,CGT	H130R	NP_001014443.1
NM_001319848.1	625	Missense Mutation	CAT,CGT	H130R	NP_001306777.1
NM_012475.4	625	Missense Mutation	CAT,CGT	H130R	NP_036607.3
XM_011509414.1	625	Missense Mutation	CAT,CGT	H159R	XP_011507716.1
XM_017001036.1	625	Missense Mutation	CAT,CGT	H159R	XP_016856525.1
XM_017001037.1	625	Missense Mutation	CAT,CGT	H130R	XP_016856526.1
XM_017001038.1	625	Missense Mutation	CAT,CGT	H130R	XP_016856527.1
XM_017001039.1	625	Missense Mutation	CAT,CGT	H130R	XP_016856528.1
XM_017001040.1	625	Missense Mutation	CAT,CGT	H159R	XP_016856529.1
XM_017001041.1	625	Intron			XP_016856530.1
XM_017001042.1	625	Intron			XP_016856531.1

View Full Product Details