Product Details

SNP ID

rs200567626

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:51245336 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGACTGAGTGGACGGTTTATCATA[A/C]CTGCTCTTCCTACTATTTATCAGTA

Phenotype

MIM: 610527

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

TMX1 PubMed Links

Gene Details

Gene

TMX1

Gene Name

thioredoxin related transmembrane protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_030755.4	417	Missense Mutation	ACT,CCT	T98P	NP_110382.3

View Full Product Details