RGD:8625724 Rat Genome Database

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Variant: RGD:8625724 -  Homo sapiens

RGD ID: 8625724
ClinVar ID: CV80848
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ABCE1  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 4 146,030,375
GRCh38 4 145,109,223
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000004.10:g.146249825C>A
NM_002940.2:c.379C>A
NM_001040876.1:c.379C>A
NC_000004.12:g.145109223C>A
More... 		missense|missense variant not provided Malignant melanoma, somatic

Variant Details
Variant Transcripts
Gene Symbol:ABCE1
Accession:NM_002940
Location:EXON
Amino Acid Prediction: Q to K (nonsynonymous)
Amino Acid Position: 127
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADKLTRIAIVNHDKCKPKKCRQECKKSCPVVRMGKLCIEVTPQSKIAWISETLCIGCGICIKKCPFGALSIVNLPSNLE
KETTHRYCANAFKLHRLPIPRPGEVLGLVGTNGIGKSTALKILAGKKKPNLGKYDDPPDWQEILTYFRGSELQNYFTKIL
EDDLKAIIKPQYVDQIPKAAKGTVGSILDRKDETKTQAIVCQQLDLTHLKERNVEDLSGGELQRFACAVVCIQKADIFMF
DEPSSYLDVKQRLKAAITIRSLINPDRYIIVVEHDLSVLDYLSDFICCLYGVPSAYGVVTMPFSVREGINIFLDGYVPTE
NLRFRDASLVFKVAETANEEEVKKMCMYKYPGMKKKMGEFELAIVAGEFTDSEIMVMLGENGTGKTTFIRMLAGRLKPDE
GGEVPVLNVSYKPQKISPKSTGSVRQLLHEKIRDAYTHPQFVTDVMKPLQIENIIDQEVQTLSGGELQRVALALCLGKPA
DVYLIDEPSAYLDSEQRLMAARVVKRFILHAKKTAFVVEHDFIMATYLADRVIVFDGVPSKNTVANSPQTLLAGMNKFLS
QLEITFRRDPNNYRPRINKLNSIKDVEQKKSGNYFFLDD*

Gene Symbol:ABCE1
Accession:NM_001040876
Location:EXON
Amino Acid Prediction: Q to K (nonsynonymous)
Amino Acid Position: 127
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADKLTRIAIVNHDKCKPKKCRQECKKSCPVVRMGKLCIEVTPQSKIAWISETLCIGCGICIKKCPFGALSIVNLPSNLE
KETTHRYCANAFKLHRLPIPRPGEVLGLVGTNGIGKSTALKILAGKKKPNLGKYDDPPDWQEILTYFRGSELQNYFTKIL
EDDLKAIIKPQYVDQIPKAAKGTVGSILDRKDETKTQAIVCQQLDLTHLKERNVEDLSGGELQRFACAVVCIQKADIFMF
DEPSSYLDVKQRLKAAITIRSLINPDRYIIVVEHDLSVLDYLSDFICCLYGVPSAYGVVTMPFSVREGINIFLDGYVPTE
NLRFRDASLVFKVAETANEEEVKKMCMYKYPGMKKKMGEFELAIVAGEFTDSEIMVMLGENGTGKTTFIRMLAGRLKPDE
GGEVPVLNVSYKPQKISPKSTGSVRQLLHEKIRDAYTHPQFVTDVMKPLQIENIIDQEVQTLSGGELQRVALALCLGKPA
DVYLIDEPSAYLDSEQRLMAARVVKRFILHAKKTAFVVEHDFIMATYLADRVIVFDGVPSKNTVANSPQTLLAGMNKFLS
QLEITFRRDPNNYRPRINKLNSIKDVEQKKSGNYFFLDD*
Variant Samples