RGD:11051502 Rat Genome Database

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Variant: RGD:11051502 -  Homo sapiens

RGD ID: 11051502
RS ID: rs869312863
ClinVar ID: CV226640
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: UHMK1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 162,492,294
GRCh38 1 162,522,504
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000001.11:g.162522504C>T
NC_000001.10:g.162492294C>T
NP_787062.1:p.Pro405Leu
NM_144624.2:c.*90C>T
More... 		09/09/2015 3 prime utr variant|missense variant likely pathogenic
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:UHMK1
Accession:NM_144624
Location:3UTRS;EXON

Gene Symbol:UHMK1
Accession:NM_001184763
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 331
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFLTRPKVCVDLNRRVTLYGVFTIHFSPNVPSRCLLLELLDVSVSELLLYSSHQGCSMWMIQHCARDVLEALAFLHHEGY
VHADLKPRNILWSAENECFKLIDFGLSFKEGNQDVKYIQTDGYRAPEAELQNCLAQAGLQSDTECTSAVDLWSLGIILLE
MFSGMKLKHTVRSQEWKANSSAIIDHIFASKAVVNAAIPAYHLRDLIKSMLHDDPSRRIPAEMALCSPFFSIPFAPHIED
LVMLPTPVLRLLNVLDDDYLENEEEYEDVVEDVKEECQKYGPVVSLLVPKENPGRGQVFVEYANAGDSKAAQKLLTGRMF
DGKFVVATFYLLSAYKRGYLYQTLL*

Gene Symbol:UHMK1
Accession:NM_175866
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 405
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGSGCAWGAEPPRFLEAFGRLWQVQSRLGSGSSASVYRVRCCGNPGSPPGALKQFLPPGTTGAAASAAEYGFRKERAAL
EQLQGHRNIVTLYGVFTIHFSPNVPSRCLLLELLDVSVSELLLYSSHQGCSMWMIQHCARDVLEALAFLHHEGYVHADLK
PRNILWSAENECFKLIDFGLSFKEGNQDVKYIQTDGYRAPEAELQNCLAQAGLQSDTECTSAVDLWSLGIILLEMFSGMK
LKHTVRSQEWKANSSAIIDHIFASKAVVNAAIPAYHLRDLIKSMLHDDPSRRIPAEMALCSPFFSIPFAPHIEDLVMLPT
PVLRLLNVLDDDYLENEEEYEDVVEDVKEECQKYGPVVSLLVPKENPGRGQVFVEYANAGDSKAAQKLLTGRMFDGKFVV
ATFYLLSAYKRGYLYQTLL*
Variant Samples
Additional References at PubMed
PMID:26350515  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000210385 CLINVAR
dbSNP (RS) rs869312863 CLINVAR
MedGen CN235864 CLINVAR
NCBI Gene UHMK1 CLINVAR
OMIM 608849 CLINVAR