Product Details

SNP ID

rs3170843

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:52032984 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCGGAGGCGAGGGGCTGGGACTGCG[C/T]AGACTGATGGGGTGGTGGGGCCCGG

Phenotype

MIM: 609448

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

KTI12 PubMed Links

Gene Details

Gene

KTI12

Gene Name

KTI12 chromatin associated homolog

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_138417.2	817	Missense Mutation	ACG,GCG	T260A	NP_612426.1

Gene

TXNDC12

Gene Name

thioredoxin domain containing 12

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015913.3	817	Intron			NP_056997.1

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