Product Details

SNP ID

rs139802061

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:1581174 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CATACGCCGGGGTTCTTCTCCACGG[C/T]GGCCGAGAGCTGTCCCGTGATGGGC

Phenotype

MIM: 603573

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

MBD3 PubMed Links

Gene Details

Gene

MBD3

Gene Name

methyl-CpG binding domain protein 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001281453.1	725	Missense Mutation	ACC,GCC	T199A	NP_001268382.1
NM_001281454.1	725	Missense Mutation	ACC,GCC	T167A	NP_001268383.1

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