Product Details

SNP ID

rs199701972

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:8842892 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCAGGTCTGCTGGCAGAGGAGACTG[A/C]AGGGACTCCAGGCTTACAGCAGTGC

Phenotype

MIM: 607963 MIM: 606154

Polymorphism

A/C, Transversion 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	300	Missense Mutation	AAG,CAG	K72Q	NP_660209.2

Gene

MUC16

Gene Name

mucin 16, cell surface associated

There are no transcripts associated with this gene.

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