Product Details

SNP ID
rs146879054
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:125789003 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAGCCGTAGTGGGGCCGATGGCTGC[A/G]AACTATAAAGACAGAAGAGAAAACA
Phenotype
MIM: 606938
Polymorphism
A/G, 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_000375.2 929 Silent Mutation TTC,TTT F221F NP_000366.1
NM_001324036.1 929 Silent Mutation TTC,TTT F248F NP_001310965.1
NM_001324037.1 929 Silent Mutation TTC,TTT F221F NP_001310966.1
NM_001324038.1 929 Silent Mutation TTC,TTT F194F NP_001310967.1
NM_001324039.1 929 Intron NP_001310968.1
XM_005270140.4 929 Intron XP_005270197.1
XM_011540127.1 929 Intron XP_011538429.1
XM_017016610.1 929 Intron XP_016872099.1
XM_017016611.1 929 Intron XP_016872100.1
XM_017016612.1 929 Intron XP_016872101.1

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