Product Details

SNP ID

rs200464363

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:49128859 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCGTGTGCTTGCAGCTGCTCCTGGA[A/C]CACCTGGAGTGCCTGGTGTCCAGGC

Phenotype

MIM: 603144

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

C19orf73 PubMed Links

Gene Details

Gene

C19orf73

Gene Name

chromosome 19 open reading frame 73

There are no transcripts associated with this gene.

Gene

PPFIA3

Gene Name

PTPRF interacting protein alpha 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003660.3	703	Missense Mutation	GAA,GAC	E118D	NP_003651.1
XM_017027407.1	703	Missense Mutation	GAA,GAC	E118D	XP_016882896.1

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