Product Details

SNP ID

rs112655571

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:99319723 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTGAATCATATTTCTTTCCTCGGA[G/T]AGTTTTCTTTTCCAGCTTTGTGAAG

Phenotype

MIM: 612564

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

TXNDC9 PubMed Links

Gene Details

Gene

TXNDC9

Gene Name

thioredoxin domain containing 9

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005783.3	831	Missense Mutation	ATC,CTC	I214L	NP_005774.2
XM_017003147.1	831	Intron			XP_016858636.1

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