Product Details

SNP ID

rs12731245

Assay Type

Functionally tested

NCBI dbSNP Submissions

35

Location

Chr.1:45021579 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

AAAGACTGTTATATCTTATAAAGGA[C/G]AAATACATTAAGTAAAGATAAAACA

Phenotype

MIM: 613521

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

UROD PubMed Links

Gene Details

Gene

UROD

Gene Name

uroporphyrinogen decarboxylase

There are no transcripts associated with this gene.

Gene

ZSWIM5

Gene Name

zinc finger SWIM-type containing 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_020883.1		Intron			NP_065934.1
XM_011541861.2		Intron			XP_011540163.1
XM_017001913.1		Intron			XP_016857402.1

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