Product Details

SNP ID

rs199633290

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.18:2656247 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCGCTCGGACTACGCGGGATTTCGC[A/G]CGTGTGTGTGTCAGGTACGCGAAGG

Phenotype

MIM: 614982

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

CBX3P2 PubMed Links

Additional Information

For this assay, SNP(s) [rs2430853] are located under a probe 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

CBX3P2

Gene Name

chromobox 3 pseudogene 2

There are no transcripts associated with this gene.

Gene

SMCHD1

Gene Name

structural maintenance of chromosomes flexible hinge domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015295.2	361	Missense Mutation	ACG,GCG	T58A	NP_056110.2
XM_011525642.1	361	Missense Mutation	ACG,GCG	T58A	XP_011523944.1
XM_011525643.2	361	Missense Mutation	ACG,GCG	T58A	XP_011523945.1
XM_011525644.2	361	UTR 5			XP_011523946.1
XM_017025684.1	361	UTR 5			XP_016881173.1

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