RGD:329402611 Rat Genome Database

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Variant: RGD:329402611 -  Homo sapiens

RGD ID: 329402611
ClinVar ID: CV2451166
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COG1  LOC126862634  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 17 71,196,736
GRCh38 17 73,200,597
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_018714.3:c.1102A>G
NG_008971.1:g.12564A>G
NG_087131.1:g.889A>G
NC_000017.11:g.73200597A>G
More... 		02/06/2023 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:COG1
Accession:NM_018714
Location:EXON
Amino Acid Prediction: N to D (nonsynonymous)
Amino Acid Position: 368
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATAATSPALKRLDLRDPAALFETHGAEEIRGLERQVRAEIEHKKEELRQMVGERYRDLIEAADTIGQMRRCAVGLVDAV
KATDQYCARLRQAGSAAPRPPRAQQPQQPSQEKFYSMAAQIKLLLEIPEKIWSSMEASQCLHATQLYLLCCHLHSLLQLD
SSSSRYSPVLSRFPILIRQVAAASHFRSTILHESKMLLKCQGVSDQAVAEALCSIMLLEESSPRQALTDFLLARKATIQK
LLNQPHHGAGIKAQICSLVELLATTLKQAHALFYTLPEGLLPDPALPCGLLFSTLETITGQHPAGKGTGVLQEEMKLCSW
FKHLPASIVEFQPTLRTLAHPISQEYLKDTLQKWIHMCNEDIKNGITDLLMYVKSMKGLAGIRDAMWELLTNESTNHSWD
VLCRRLLEKPLLFWEDMMQQLFLDRLQTLTKEGFDSISSSSKELLVSALQELESSTSNSPSNKHIHFEYNMSLFLWSESP
NDLPSDAAWVSVANRGQFASSGLSMKAQAISPCVQNFCSALDSKLKVKLDDLLAYLPSDDSSLPKDVSPTQAKSSAFDRY
ADAGTVQEMLRTQSVACIKHIVDCIRAELQSIEEGVQGQQDALNSAKLHSVLFMARLCQSLGELCPHLKQCILGKSESSE
KPAREFRALRKQGKVKTQEIIPTQAKWQEVKEVLLQQSVMGYQVWSSAVVKVLIHGFTQSLLLDDAGSVLATATSWDELE
IQEEAESGSSVTSKIRLPAQPSWYVQSFLFSLCQEINRVGGHALPKVTLQEMLKSCMVQVVAAYEKLSEEKQIKKEGAFP
VTQNRALQLLYDLRYLNIVLTAKGDEVKSGRSKPDSRIEKVTDHLEALIDPFDLDVFTPHLNSNLHRLVQRTSVLFGLVT
GTENQLAPRSSTFNSQEPHNILPLASSQIRFGLLPLSMTSTRKAKSTRNIETKAQVVPPARSTAGDPTVPGSLFRQLVSE
EDNTSAPSLFKLGWLSSMTK*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003199524 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene COG1 CLINVAR
  LOC126862634 CLINVAR
OMIM 606973 CLINVAR