Product Details

SNP ID

rs200596763

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:47801819 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGGGGCCTGAGTGATTTTCATTCA[C/T]AGAGCCACCCTCCTCTTGGGGCTGA

Phenotype

MIM: 611166

Polymorphism

C/T, Transition 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	1263	Missense Mutation	ATG,GTG	M398V	NP_940881.2

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