Product Details

SNP ID

rs147688404

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:10405271 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTAGTTTTTATCTTCAATAACATA[A/T]GAAAGATCCAAAATCAAATTGGCTG

Phenotype

MIM: 604896

Polymorphism

A/T, 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	2579	Silent Mutation	TCA,TCT	S563S	NP_061336.1
NM_170784.2	2579	Silent Mutation	TCA,TCT	S563S	NP_740754.1

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