Product Details

SNP ID

rs200546143

Assay Type

Functionally tested

NCBI dbSNP Submissions

15

Location

Chr.1:162500071 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATTGCTCTTATATTCCAGTCACCAG[C/G]GTTGTTCCATGTGGATGATACAGCA

Phenotype

MIM: 608849

Polymorphism

C/G, Transversion 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	581	Missense Mutation	CGT,GGT	R55G	NP_001171692.1
NM_144624.2	581	Missense Mutation	CGT,GGT	R129G	NP_653225.2
NM_175866.4	581	Missense Mutation	CGT,GGT	R129G	NP_787062.1

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