RGD:13529673 Rat Genome Database

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Variant: RGD:13529673 -  Homo sapiens

RGD ID: 13529673
RS ID: rs1555991561
ClinVar ID: CV507546
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DYRK1A  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 21 38,878,541
GRCh38 21 37,506,238
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_567824.1:p.Val562=
NM_101395.2:c.1686G>A
NM_001347723.2:c.1557+15G>A
NM_001347721.2:c.1644+15G>A
More... 		05/16/2017 intron variant likely benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:DYRK1A
Accession:NM_101395
Location:EXON
Amino Acid Prediction: V to V (synonymous)
Amino Acid Position: 562
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHTGGETSACKPSSVRLAPSFSFHAAGLQMAGQMPHSHQYSDRRQPNISDQQVSALSYSDQIQQPLTNQVMPDIVMLQRR
MPQTFRDPATAPLRKLSVDLIKTYKHINEVYYAKKKRRHQQGQGDDSSHKKERKVYNDGYDDDNYDYIVKNGEKWMDRYE
IDSLIGKGSFGQVVKAYDRVEQEWVAIKIIKNKKAFLNQAQIEVRLLELMNKHDTEMKYYIVHLKRHFMFRNHLCLVFEM
LSYNLYDLLRNTNFRGVSLNLTRKFAQQMCTALLFLATPELSIIHCDLKPENILLCNPKRSAIKIVDFGSSCQLGQRIYQ
YIQSRFYRSPEVLLGMPYDLAIDMWSLGCILVEMHTGEPLFSGANEVDQMNKIVEVLGIPPAHILDQAPKARKFFEKLPD
GTWNLKKTKDGKREYKPPGTRKLHNILGVETGGPGGRRAGESGHTVADYLKFKDLILRMLDYDPKTRIQPYYALQHSFFK
KTADEGTNTSNSVSTSPAMEQSQSSGTTSSTSSSSGGSSGTSNSGRARSDPTHQHRHSGGHFTAAVQAMDCETHSPQVSS
HVVHLLVSPAILRWSSTGCQVPLE*

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:DYRK1A
Accession:NM_001347722
Location:INTRON

Gene Symbol:DYRK1A
Accession:NM_001347721
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:DYRK1A
Accession:NM_130438
Location:INTRON

Gene Symbol:DYRK1A
Accession:NM_001347723
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:DYRK1A
Accession:NM_130436
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:DYRK1A
Accession:NM_001396
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000605827 CLINVAR
dbSNP (RS) rs1555991561 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene DYRK1A CLINVAR
OMIM 600855 CLINVAR