Product Details

SNP ID

rs144013839

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:47802022 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGGCTCTGAGGCCATAAGGGGGCT[C/G]GGGCTGGGAGTGATCCTGGGCCTGG

Phenotype

MIM: 611166

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

TPRX1 PubMed Links

Gene Details

Gene

TPRX1

Gene Name

tetrapeptide repeat homeobox 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_198479.2	1060	Missense Mutation	CCA,CGA	P330R	NP_940881.2

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