Product Details

SNP ID
rs186098206
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:125788925 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGATGCCAGTGGCCAGGGCTTGTGG[C/T]GTGGGGCTCTCTGCAGTGCAGCTTA
Phenotype
MIM: 606938
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
UROS PubMed Links

Gene Details

Gene
UROS
Gene Name
uroporphyrinogen III synthase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000375.2 1007 Silent Mutation ACA,ACG T247T NP_000366.1
NM_001324036.1 1007 Silent Mutation ACA,ACG T274T NP_001310965.1
NM_001324037.1 1007 Silent Mutation ACA,ACG T247T NP_001310966.1
NM_001324038.1 1007 Silent Mutation ACA,ACG T220T NP_001310967.1
NM_001324039.1 1007 Intron NP_001310968.1
XM_005270140.4 1007 Intron XP_005270197.1
XM_011540127.1 1007 Intron XP_011538429.1
XM_017016610.1 1007 Intron XP_016872099.1
XM_017016611.1 1007 Intron XP_016872100.1
XM_017016612.1 1007 Intron XP_016872101.1

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