Product Details

SNP ID
rs139536052
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.21:42103933 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAAGTGGGAAGCTGAGAATGCAGAT[C/T]GTGTCTCTCCAGGCGGGAAGTGTGG
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 4289 Silent Mutation ATC,ATT I455I NP_001004416.2
NM_001199527.1 4289 Silent Mutation ATC,ATT I383I NP_001186456.1
NM_001199528.2 4289 Silent Mutation ATC,ATT I383I NP_001186457.2
NM_173568.3 4289 Silent Mutation ATC,ATT I455I NP_775839.3
XM_011529797.1 4289 Missense Mutation ATC,ATT I277I XP_011528099.1
XM_017028506.1 4289 Missense Mutation ATC,ATT I383I XP_016883995.1
XM_017028507.1 4289 Missense Mutation ATC,ATT I351I XP_016883996.1
XM_017028508.1 4289 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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