Product Details

SNP ID

rs199598545

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.16:27226758 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGTGACAGATATTGCAGATCTTCA[C/T]CGCGTCGGGGTACGTCTCCCGGATG

Phenotype

MIM: 611917

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

KDM8 PubMed Links

Additional Information

For this assay, SNP(s) [rs34940876] 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

KDM8

Gene Name

lysine demethylase 8

There are no transcripts associated with this gene.

Gene

NSMCE1

Gene Name

NSE1 homolog, SMC5-SMC6 complex component

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_145080.3	678	Missense Mutation	ATG,GTG	M188V	NP_659547.2
XM_006721023.3	678	Missense Mutation	ATG,GTG	M188V	XP_006721086.1
XM_011545761.2	678	Missense Mutation	ATG,GTG	M225V	XP_011544063.1
XM_011545762.1	678	Missense Mutation	ATG,GTG	M92V	XP_011544064.1
XM_017023040.1	678	Missense Mutation	ATG,GTG	M92V	XP_016878529.1
XM_017023041.1	678	Missense Mutation	ATG,GTG	M92V	XP_016878530.1
XM_017023042.1	678	Missense Mutation	ATG,GTG	M92V	XP_016878531.1

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