Product Details

SNP ID

rs200653636

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:8851284 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AACCCTTCCTTGCTCACCAGGACAC[C/T]GCAGATCAGGCATGTGATGACTCCC

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	33488	Missense Mutation	AGT,GGT	S14473G	NP_078966.2
XM_017027486.1	33488	Missense Mutation	AGT,GGT	S14223G	XP_016882975.1
XM_017027487.1	33488	Missense Mutation	AGT,GGT	S14201G	XP_016882976.1
XM_017027488.1	33488	Missense Mutation	AGT,GGT	S14194G	XP_016882977.1
XM_017027489.1	33488	Missense Mutation	AGT,GGT	S14183G	XP_016882978.1
XM_017027490.1	33488	Missense Mutation	AGT,GGT	S14068G	XP_016882979.1
XM_017027491.1	33488	Missense Mutation	AGT,GGT	S14068G	XP_016882980.1
XM_017027492.1	33488	Missense Mutation	AGT,GGT	S14067G	XP_016882981.1
XM_017027493.1	33488	Missense Mutation	AGT,GGT	S14067G	XP_016882982.1
XM_017027494.1	33488	Missense Mutation	AGT,GGT	S14067G	XP_016882983.1
XM_017027495.1	33488	Missense Mutation	AGT,GGT	S14067G	XP_016882984.1
XM_017027496.1	33488	Missense Mutation	AGT,GGT	S13600G	XP_016882985.1
XM_017027497.1	33488	Missense Mutation	AGT,GGT	S13442G	XP_016882986.1
XM_017027498.1	33488	Intron			XP_016882987.1
XM_017027499.1	33488	Missense Mutation	AGT,GGT	S11152G	XP_016882988.1
XM_017027500.1	33488	Missense Mutation	AGT,GGT	S11125G	XP_016882989.1
XM_017027501.1	33488	Missense Mutation	AGT,GGT	S1781G	XP_016882990.1

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