Product Details

SNP ID

rs149095209

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:10405321 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTCTCTACAGCCACCTGTAGGCCAC[C/T]AAGCTTTGCAGTCAAACAGTCCAAG

Phenotype

MIM: 604896

Polymorphism

C/T, Transition 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	2529	Missense Mutation			NP_061336.1
NM_170784.2	2529	Missense Mutation			NP_740754.1

View Full Product Details