Product Details

SNP ID

rs147848953

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:1581092 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCAGGGGACCAGGCCAAGGGGCTAC[C/T]TGATGTCCTCGTCGGTCACCATGAA

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	807	Missense Mutation	AAG,AGG	K226R	NP_001268382.1
NM_001281454.1	807	Missense Mutation	AAG,AGG	K194R	NP_001268383.1

View Full Product Details