Product Details

SNP ID
rs111565562
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.21:42102214 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATAAAGATTGTAAACCACAACCTGA[C/T]GGAGAAGTTACTCAACCGCAGCAGT
Phenotype
MIM: 613859
Polymorphism
C/T, Transition 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 4159 Missense Mutation ACG,ATG T412M NP_001004416.2
NM_001199527.1 4159 Missense Mutation ACG,ATG T340M NP_001186456.1
NM_001199528.2 4159 Missense Mutation ACG,ATG T340M NP_001186457.2
NM_173568.3 4159 Missense Mutation ACG,ATG T412M NP_775839.3
XM_011529797.1 4159 Missense Mutation ACG,ATG T234M XP_011528099.1
XM_017028506.1 4159 Missense Mutation ACG,ATG T340M XP_016883995.1
XM_017028507.1 4159 Missense Mutation ACG,ATG T308M XP_016883996.1
XM_017028508.1 4159 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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