Product Details

SNP ID

rs1035442

Assay Type

Validated

NCBI dbSNP Submissions

NA

Location

Chr.19:8851305 on Build GRCh38

Set Membership

HapMap Validated

Context Sequence [VIC/FAM]

ACACCGCAGATCAGGCATGTGATGA[G/C]TCCCAGGAGTCCTGCCAAGCCGATG

Phenotype

MIM: 607963 MIM: 606154

Polymorphism

G/C, Transversion 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	33467	Missense Mutation	CTC,GTC	L14466V	NP_078966.2
XM_017027486.1	33467	Missense Mutation	CTC,GTC	L14216V	XP_016882975.1
XM_017027487.1	33467	Missense Mutation	CTC,GTC	L14194V	XP_016882976.1
XM_017027488.1	33467	Missense Mutation	CTC,GTC	L14187V	XP_016882977.1
XM_017027489.1	33467	Missense Mutation	CTC,GTC	L14176V	XP_016882978.1
XM_017027490.1	33467	Missense Mutation	CTC,GTC	L14061V	XP_016882979.1
XM_017027491.1	33467	Missense Mutation	CTC,GTC	L14061V	XP_016882980.1
XM_017027492.1	33467	Missense Mutation	CTC,GTC	L14060V	XP_016882981.1
XM_017027493.1	33467	Missense Mutation	CTC,GTC	L14060V	XP_016882982.1
XM_017027494.1	33467	Missense Mutation	CTC,GTC	L14060V	XP_016882983.1
XM_017027495.1	33467	Missense Mutation	CTC,GTC	L14060V	XP_016882984.1
XM_017027496.1	33467	Missense Mutation	CTC,GTC	L13593V	XP_016882985.1
XM_017027497.1	33467	Missense Mutation	CTC,GTC	L13435V	XP_016882986.1
XM_017027498.1	33467	Intron			XP_016882987.1
XM_017027499.1	33467	Missense Mutation	CTC,GTC	L11145V	XP_016882988.1
XM_017027500.1	33467	Missense Mutation	CTC,GTC	L11118V	XP_016882989.1
XM_017027501.1	33467	Missense Mutation	CTC,GTC	L1774V	XP_016882990.1

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