Product Details

SNP ID
rs201080213
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.21:42104006 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCAGGACCCCGGGTTTCCCATGGGC[A/T]TCTCCACGCTGGCCCCCATACTCCA
Phenotype
MIM: 613859
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
UMODL1 PubMed Links

Gene Details

Gene
UMODL1
Gene Name
uromodulin like 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001004416.2 4362 Missense Mutation ATC,TTC I480F NP_001004416.2
NM_001199527.1 4362 Missense Mutation ATC,TTC I408F NP_001186456.1
NM_001199528.2 4362 Missense Mutation ATC,TTC I408F NP_001186457.2
NM_173568.3 4362 Missense Mutation ATC,TTC I480F NP_775839.3
XM_011529797.1 4362 Missense Mutation ATC,TTC I302F XP_011528099.1
XM_017028506.1 4362 Missense Mutation ATC,TTC I408F XP_016883995.1
XM_017028507.1 4362 Missense Mutation ATC,TTC I376F XP_016883996.1
XM_017028508.1 4362 Intron XP_016883997.1
Gene
UMODL1-AS1
Gene Name
UMODL1 antisense RNA 1
There are no transcripts associated with this gene.

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