Product Details

SNP ID

rs200809621

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:52020991 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCATCACCCGTCAGCCTTTCCTGA[A/G]CTTCCTTCATCCCCTGAACAACTGT

Phenotype

MIM: 609448

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

TXNDC12 PubMed Links

Gene Details

Gene

TXNDC12

Gene Name

thioredoxin domain containing 12

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015913.3	1536	Missense Mutation	GCT,GTT	A154V	NP_056997.1

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