Product Details

SNP ID

rs144130932

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:828263 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCCTTTTGGACATCGTTGGCGGCC[A/G]GAAGGCGAGGCCCCGCCAGTTCCCG

Phenotype

MIM: 162815 MIM: 610391

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

AZU1 PubMed Links

Gene Details

Gene

AZU1

Gene Name

azurocidin 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001700.4	113	Missense Mutation	CAG,CGG	Q31R	NP_001691.1

Gene

PLPPR3

Gene Name

phospholipid phosphatase related 3

There are no transcripts associated with this gene.

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