Product Details

SNP ID

rs149587207

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:39837830 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGAGCGGTGGGAGAACTCGACTGCA[C/T]AGACTAGACCATCCTAAAATAAATT

Phenotype

MIM: 604556 MIM: 134795

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

DYRK1B PubMed Links

Gene Details

Gene

DYRK1B

Gene Name

dual specificity tyrosine phosphorylation regulated kinase 1B

There are no transcripts associated with this gene.

Gene

FBL

Gene Name

fibrillarin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001436.3	458	Missense Mutation	TAT,TGT	Y188C	NP_001427.2
XM_005258651.2	458	Missense Mutation	TAT,TGT	Y187C	XP_005258708.1
XM_011526623.2	458	Missense Mutation	TAT,TGT	Y131C	XP_011524925.1

Gene

MIR6719

Gene Name

microRNA 6719

There are no transcripts associated with this gene.

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