Product Details

SNP ID

rs141302738

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.20:10405408 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGCAGCTTTGTGGCACAAATGGAC[A/G]ACGTGTGCTTCTTAAGAAAGACCAG

Phenotype

MIM: 604896

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

MKKS PubMed Links

Additional Information

For this assay, SNP(s) [rs1547] 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

MKKS

Gene Name

McKusick-Kaufman syndrome

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018848.3	2442	Missense Mutation	CGT,TGT	R518C	NP_061336.1
NM_170784.2	2442	Missense Mutation	CGT,TGT	R518C	NP_740754.1

View Full Product Details