Product Details

SNP ID
rs138713416
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:126483431 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCCCCTCGGCCTCCGGGGTACCGT[A/C]CAGCACGAGGCCGAATCCCCCGTTG
Phenotype
MIM: 613012 MIM: 615746
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
UROC1 PubMed Links

Gene Details

Gene
UROC1
Gene Name
urocanate hydratase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001165974.1 1882 Missense Mutation GAC,TAC D670Y NP_001159446.1
NM_144639.2 1882 Missense Mutation GAC,TAC D610Y NP_653240.1
Gene
ZXDC
Gene Name
ZXD family zinc finger C
There are no transcripts associated with this gene.

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