Product Details

SNP ID

rs149008130

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:126482448 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGCATGGTCTGGCAGATGATCTCA[C/T]AGGCCTTCTGGTTCCCTGACCAGCA

Phenotype

MIM: 613012 MIM: 615746

Polymorphism

C/T, Transition 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	1982	Missense Mutation	TAT,TGT	Y703C	NP_001159446.1
NM_144639.2	1982	Missense Mutation	TAT,TGT	Y643C	NP_653240.1

Gene

ZXDC

Gene Name

ZXD family zinc finger C

There are no transcripts associated with this gene.

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