Product Details

SNP ID

rs144687276

Assay Type

Functionally tested

NCBI dbSNP Submissions

12

Location

Chr.1:52033146 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCGTTAGGGCCTCCAGGAGTTCGG[G/T]AGAGTAAAAGGCACCGGACCCATGC

Phenotype

MIM: 609448

Polymorphism

G/T, Transversion 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	655	Missense Mutation	ACC,CCC	T206P	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	655	Intron			NP_056997.1

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