Product Details

SNP ID
rs201139760
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:125788875 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGCGCTAGGTGGCTGACTCAGCAG[A/C]AGCCATGGGGCTGGAGAGCCTTCCT
Phenotype
MIM: 606938
Polymorphism
A/C, Transversion 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 1057 Missense Mutation TGC,TTC C264F NP_000366.1
NM_001324036.1 1057 Missense Mutation TGC,TTC C291F NP_001310965.1
NM_001324037.1 1057 Missense Mutation TGC,TTC C264F NP_001310966.1
NM_001324038.1 1057 Missense Mutation TGC,TTC C237F NP_001310967.1
NM_001324039.1 1057 Intron NP_001310968.1
XM_005270140.4 1057 Intron XP_005270197.1
XM_011540127.1 1057 Intron XP_011538429.1
XM_017016610.1 1057 Intron XP_016872099.1
XM_017016611.1 1057 Intron XP_016872100.1
XM_017016612.1 1057 Intron XP_016872101.1

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