Product Details

SNP ID
rs187418745
Assay Type
Functionally Tested
NCBI dbSNP Submissions
1
Location
Chr.1:162498109 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTGGGTAGCGGCTCCTCCGCCTCG[C/G]TGTATCGGGTTCGCTGCTGCGGCAA
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_001184763.1 305 Intron NP_001171692.1
NM_144624.2 305 Missense Mutation CTG,GTG L37V NP_653225.2
NM_175866.4 305 Missense Mutation CTG,GTG L37V NP_787062.1

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