Product Details

SNP ID

rs2026316

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.20:10441705 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TGTTACTTGCATTATCCTCTTTCCA[G/T]TGTTGAATCTGACGTGTTTGTTTTT

Phenotype

MIM: 604896 MIM: 615958

Polymorphism

G/T, Transversion Substitution

Allele Nomenclature

Literature Links

MKKS PubMed Links

Additional Information

For this assay, SNP(s) [rs188349794] 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

MKKS

Gene Name

McKusick-Kaufman syndrome

There are no transcripts associated with this gene.

Gene

SLX4IP

Gene Name

SLX4 interacting protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001009608.2		Intron			NP_001009608.1
XM_017027647.1		Intron			XP_016883136.1
XM_017027648.1		Intron			XP_016883137.1
XM_017027649.1		Intron			XP_016883138.1
XM_017027650.1		Intron			XP_016883139.1
XM_017027651.1		Intron			XP_016883140.1
XM_017027652.1		Intron			XP_016883141.1
XM_017027653.1		Intron			XP_016883142.1

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