Product Details

SNP ID

rs143469937

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:20034366 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTACACAGCAATCTCCGGCACGTTT[C/T]GGTTGTTGATGTATTTATAGCAGTT

Phenotype

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

LAPTM4A PubMed Links

Gene Details

Gene

LAPTM4A

Gene Name

lysosomal protein transmembrane 4 alpha

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014713.4	1086	Missense Mutation	CAA,CGA	Q193R	NP_055528.1

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