Product Details

SNP ID

rs138013990

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.19:8851353 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATGAGGATGACAGCCCAGAAGGGAA[G/T]GTCTGGGGAGACAAGGGCTGGGGTG

Phenotype

MIM: 607963 MIM: 606154

Polymorphism

G/T, Transversion Substitution

Allele Nomenclature

Literature Links

MBD3L1 PubMed Links

Additional Information

For this assay, SNP(s) [rs1035442] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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	33419	Missense Mutation			NP_078966.2
XM_017027486.1	33419	Missense Mutation			XP_016882975.1
XM_017027487.1	33419	Missense Mutation			XP_016882976.1
XM_017027488.1	33419	Missense Mutation			XP_016882977.1
XM_017027489.1	33419	Missense Mutation			XP_016882978.1
XM_017027490.1	33419	Missense Mutation			XP_016882979.1
XM_017027491.1	33419	Missense Mutation			XP_016882980.1
XM_017027492.1	33419	Missense Mutation			XP_016882981.1
XM_017027493.1	33419	Missense Mutation			XP_016882982.1
XM_017027494.1	33419	Missense Mutation			XP_016882983.1
XM_017027495.1	33419	Missense Mutation			XP_016882984.1
XM_017027496.1	33419	Missense Mutation			XP_016882985.1
XM_017027497.1	33419	Missense Mutation			XP_016882986.1
XM_017027498.1	33419	Intron			XP_016882987.1
XM_017027499.1	33419	Missense Mutation			XP_016882988.1
XM_017027500.1	33419	Missense Mutation			XP_016882989.1
XM_017027501.1	33419	Missense Mutation			XP_016882990.1

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