Product Details

SNP ID

rs146396685

Assay Type

Functionally tested

NCBI dbSNP Submissions

4

Location

Chr.1:162500042 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTGAACTCCTGGATGTCAGTGTTT[C/T]GGAATTGCTCTTATATTCCAGTCAC

Phenotype

MIM: 608849

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

UHMK1 PubMed Links

Gene Details

Gene

UHMK1

Gene Name

U2AF homology motif (UHM) kinase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001184763.1	552	Missense Mutation	TCG,TTG	S45L	NP_001171692.1
NM_144624.2	552	Missense Mutation	TCG,TTG	S119L	NP_653225.2
NM_175866.4	552	Missense Mutation	TCG,TTG	S119L	NP_787062.1

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