Product Details

SNP ID

rs202085104

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:8851298 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACCAGGACACCGCAGATCAGGCAT[A/G]TGATGACTCCCAGGAGTCCTGCCAA

Phenotype

MIM: 607963 MIM: 606154

Polymorphism

A/G, 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	33474	Missense Mutation	ACA,ATA	T14468I	NP_078966.2
XM_017027486.1	33474	Missense Mutation	ACA,ATA	T14218I	XP_016882975.1
XM_017027487.1	33474	Missense Mutation	ACA,ATA	T14196I	XP_016882976.1
XM_017027488.1	33474	Missense Mutation	ACA,ATA	T14189I	XP_016882977.1
XM_017027489.1	33474	Missense Mutation	ACA,ATA	T14178I	XP_016882978.1
XM_017027490.1	33474	Missense Mutation	ACA,ATA	T14063I	XP_016882979.1
XM_017027491.1	33474	Missense Mutation	ACA,ATA	T14063I	XP_016882980.1
XM_017027492.1	33474	Missense Mutation	ACA,ATA	T14062I	XP_016882981.1
XM_017027493.1	33474	Missense Mutation	ACA,ATA	T14062I	XP_016882982.1
XM_017027494.1	33474	Missense Mutation	ACA,ATA	T14062I	XP_016882983.1
XM_017027495.1	33474	Missense Mutation	ACA,ATA	T14062I	XP_016882984.1
XM_017027496.1	33474	Missense Mutation	ACA,ATA	T13595I	XP_016882985.1
XM_017027497.1	33474	Missense Mutation	ACA,ATA	T13437I	XP_016882986.1
XM_017027498.1	33474	Intron			XP_016882987.1
XM_017027499.1	33474	Missense Mutation	ACA,ATA	T11147I	XP_016882988.1
XM_017027500.1	33474	Missense Mutation	ACA,ATA	T11120I	XP_016882989.1
XM_017027501.1	33474	Missense Mutation	ACA,ATA	T1776I	XP_016882990.1

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