Product Details

SNP ID
rs121908020
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:125788993 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCCAGCGCGCGAGCCGTAGTGGGGC[C/T]GATGGCTGCAAACTATAAAGACAGA
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_000375.2 939 Missense Mutation AGC,GGC S225G NP_000366.1
NM_001324036.1 939 Missense Mutation AGC,GGC S252G NP_001310965.1
NM_001324037.1 939 Missense Mutation AGC,GGC S225G NP_001310966.1
NM_001324038.1 939 Missense Mutation AGC,GGC S198G NP_001310967.1
NM_001324039.1 939 Intron NP_001310968.1
XM_005270140.4 939 Intron XP_005270197.1
XM_011540127.1 939 Intron XP_011538429.1
XM_017016610.1 939 Intron XP_016872099.1
XM_017016611.1 939 Intron XP_016872100.1
XM_017016612.1 939 Intron XP_016872101.1

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