Product Details

SNP ID
rs143947596
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:125788966 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTGCAGCTTACAGGAAGGCCCTGGG[C/T]GGCCAGCGCGCGAGCCGTAGTGGGG
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_000375.2 966 Missense Mutation NP_000366.1
NM_001324036.1 966 Missense Mutation NP_001310965.1
NM_001324037.1 966 Missense Mutation NP_001310966.1
NM_001324038.1 966 Missense Mutation NP_001310967.1
NM_001324039.1 966 Intron NP_001310968.1
XM_005270140.4 966 Intron XP_005270197.1
XM_011540127.1 966 Intron XP_011538429.1
XM_017016610.1 966 Intron XP_016872099.1
XM_017016611.1 966 Intron XP_016872100.1
XM_017016612.1 966 Intron XP_016872101.1

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