Product Details

SNP ID

rs200914699

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:1578391 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGTCGGGCTCCTCCTCCTCCTCCTC[C/G]TCGTCTTCCTCGTCGTCGTCCTCAG

Phenotype

MIM: 603573

Polymorphism

C/G, Transversion 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	955	Missense Mutation	GAC,GAG	D275E	NP_001268382.1
NM_001281454.1	955	Missense Mutation	GAC,GAG	D243E	NP_001268383.1

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