Product Details

SNP ID

rs201482712

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:39834687 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTCACCTGTACACTCCCACGACCA[C/T]GGCATGGTCTCTTTCATATGGCTCA

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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004714.2	817	Intron			NP_004705.1
NM_006483.2	817	Intron			NP_006474.1
NM_006484.2	817	Intron			NP_006475.1
XM_005259398.4	817	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	817	Missense Mutation	ATG,GTG	M308V	NP_001427.2
XM_005258651.2	817	Missense Mutation	ATG,GTG	M307V	XP_005258708.1
XM_011526623.2	817	Missense Mutation	ATG,GTG	M251V	XP_011524925.1

Gene

MIR6719

Gene Name

microRNA 6719

There are no transcripts associated with this gene.

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