Product Details

SNP ID

rs200425706

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:8849008 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTGCTGGACGTTGTATTCTCCTTCC[C/T]TCTTCCGCCGGCGGGTGGTCACCTA

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

There are no transcripts associated with this gene.

Gene

MUC16

Gene Name

mucin 16, cell surface associated

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_024690.2	33519	Missense Mutation	AAG,AGG	K14483R	NP_078966.2
XM_017027486.1	33519	Missense Mutation	AAG,AGG	K14233R	XP_016882975.1
XM_017027487.1	33519	Missense Mutation	AAG,AGG	K14211R	XP_016882976.1
XM_017027488.1	33519	Missense Mutation	AAG,AGG	K14204R	XP_016882977.1
XM_017027489.1	33519	Missense Mutation	AAG,AGG	K14193R	XP_016882978.1
XM_017027490.1	33519	Missense Mutation	AAG,AGG	K14078R	XP_016882979.1
XM_017027491.1	33519	Missense Mutation	AAG,AGG	K14078R	XP_016882980.1
XM_017027492.1	33519	Missense Mutation	AAG,AGG	K14077R	XP_016882981.1
XM_017027493.1	33519	Missense Mutation	AAG,AGG	K14077R	XP_016882982.1
XM_017027494.1	33519	Missense Mutation	AAG,AGG	K14077R	XP_016882983.1
XM_017027495.1	33519	Missense Mutation	AAG,AGG	K14077R	XP_016882984.1
XM_017027496.1	33519	Missense Mutation	AAG,AGG	K13610R	XP_016882985.1
XM_017027497.1	33519	Missense Mutation	AAG,AGG	K13452R	XP_016882986.1
XM_017027498.1	33519	Intron			XP_016882987.1
XM_017027499.1	33519	Missense Mutation	AAG,AGG	K11162R	XP_016882988.1
XM_017027500.1	33519	Missense Mutation	AAG,AGG	K11135R	XP_016882989.1
XM_017027501.1	33519	Missense Mutation	AAG,AGG	K1791R	XP_016882990.1

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