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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