Product Details

SNP ID

rs199971564

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:51247132 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATTTAGGCGCTATCAGGGTCCAAGG[A/G]CTAAGAAGGACTTCATAAACTTTAT

Phenotype

MIM: 610527

Polymorphism

A/G, Transition 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	480	Missense Mutation	ACT,GCT	T119A	NP_110382.3

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