Product Details

SNP ID

rs185931924

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:8848991 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TAGTAGCCTGGGCACTGTTGCTGGA[C/T]GTTGTATTCTCCTTCCTTCTTCCGC

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	33536	Missense Mutation	ATC,GTC	I14489V	NP_078966.2
XM_017027486.1	33536	Missense Mutation	ATC,GTC	I14239V	XP_016882975.1
XM_017027487.1	33536	Missense Mutation	ATC,GTC	I14217V	XP_016882976.1
XM_017027488.1	33536	Missense Mutation	ATC,GTC	I14210V	XP_016882977.1
XM_017027489.1	33536	Missense Mutation	ATC,GTC	I14199V	XP_016882978.1
XM_017027490.1	33536	Missense Mutation	ATC,GTC	I14084V	XP_016882979.1
XM_017027491.1	33536	Missense Mutation	ATC,GTC	I14084V	XP_016882980.1
XM_017027492.1	33536	Missense Mutation	ATC,GTC	I14083V	XP_016882981.1
XM_017027493.1	33536	Missense Mutation	ATC,GTC	I14083V	XP_016882982.1
XM_017027494.1	33536	Missense Mutation	ATC,GTC	I14083V	XP_016882983.1
XM_017027495.1	33536	Missense Mutation	ATC,GTC	I14083V	XP_016882984.1
XM_017027496.1	33536	Missense Mutation	ATC,GTC	I13616V	XP_016882985.1
XM_017027497.1	33536	Missense Mutation	ATC,GTC	I13458V	XP_016882986.1
XM_017027498.1	33536	Intron			XP_016882987.1
XM_017027499.1	33536	Missense Mutation	ATC,GTC	I11168V	XP_016882988.1
XM_017027500.1	33536	Missense Mutation	ATC,GTC	I11141V	XP_016882989.1
XM_017027501.1	33536	Missense Mutation	ATC,GTC	I1797V	XP_016882990.1

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