Product Details

SNP ID

rs137853155

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:10405465 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTTCCTGGCTATTGTATAATCCAC[T/A]GCCACACTGTGAAAGCAAATCTGGC

Phenotype

MIM: 604896

Polymorphism

T/A, Transversion substitution

Allele Nomenclature

Literature Links

MKKS PubMed Links

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	2385	Missense Mutation	AGT,TGT	S499C	NP_061336.1
NM_170784.2	2385	Missense Mutation	AGT,TGT	S499C	NP_740754.1

View Full Product Details