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SNP ID

rs147868443

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:8843180 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAAAGTGAAGACAGTCAGAGAGAGA[C/T]TCGCAATAGCACTGATTGCGGATGG

Phenotype

MIM: 607963 MIM: 606154

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

MBD3L1 PubMed Links

Gene Details

Gene

MBD3L1

Gene Name

methyl-CpG binding domain protein 3 like 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_145208.2	588	Missense Mutation	CTC,TTC	L168F	NP_660209.2

Gene

MUC16

Gene Name

mucin 16, cell surface associated

There are no transcripts associated with this gene.

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