Product Details

SNP ID

rs61748893

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:8849020 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTATTCTCCTTCCTTCTTCCGCCGG[C/T]GGGTGGTCACCTATGAGGGTGAGGA

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	33507	Missense Mutation	CAC,CGC	H14479R	NP_078966.2
XM_017027486.1	33507	Missense Mutation	CAC,CGC	H14229R	XP_016882975.1
XM_017027487.1	33507	Missense Mutation	CAC,CGC	H14207R	XP_016882976.1
XM_017027488.1	33507	Missense Mutation	CAC,CGC	H14200R	XP_016882977.1
XM_017027489.1	33507	Missense Mutation	CAC,CGC	H14189R	XP_016882978.1
XM_017027490.1	33507	Missense Mutation	CAC,CGC	H14074R	XP_016882979.1
XM_017027491.1	33507	Missense Mutation	CAC,CGC	H14074R	XP_016882980.1
XM_017027492.1	33507	Missense Mutation	CAC,CGC	H14073R	XP_016882981.1
XM_017027493.1	33507	Missense Mutation	CAC,CGC	H14073R	XP_016882982.1
XM_017027494.1	33507	Missense Mutation	CAC,CGC	H14073R	XP_016882983.1
XM_017027495.1	33507	Missense Mutation	CAC,CGC	H14073R	XP_016882984.1
XM_017027496.1	33507	Missense Mutation	CAC,CGC	H13606R	XP_016882985.1
XM_017027497.1	33507	Missense Mutation	CAC,CGC	H13448R	XP_016882986.1
XM_017027498.1	33507	Intron			XP_016882987.1
XM_017027499.1	33507	Missense Mutation	CAC,CGC	H11158R	XP_016882988.1
XM_017027500.1	33507	Missense Mutation	CAC,CGC	H11131R	XP_016882989.1
XM_017027501.1	33507	Missense Mutation	CAC,CGC	H1787R	XP_016882990.1

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