Product Details

SNP ID
rs140415693
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:39834543 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AATCCTGACAGCGCTGAACTTCAGT[A/T]CTTCACCTTGGGGGGTGGCCTGTGA
Phenotype
MIM: 604556 MIM: 134795
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
DYRK1B PubMed Links

Gene Details

Gene
DYRK1B
Gene Name
dual specificity tyrosine phosphorylation regulated kinase 1B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_004714.2 856 Intron NP_004705.1
NM_006483.2 856 Intron NP_006474.1
NM_006484.2 856 Intron NP_006475.1
XM_005259398.4 856 Intron XP_005259455.1
Gene
FBL
Gene Name
fibrillarin
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001436.3 856 Missense Mutation AAC,TAC N321Y NP_001427.2
XM_005258651.2 856 Missense Mutation AAC,TAC N320Y XP_005258708.1
XM_011526623.2 856 Missense Mutation AAC,TAC N264Y XP_011524925.1
Gene
MIR6719
Gene Name
microRNA 6719
There are no transcripts associated with this gene.

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