rs774479733 Rat Genome Database

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Variant: rs774479733 -  Homo sapiens

RGD ID: 14693134
RS ID: rs774479733
ClinVar ID: CV620604
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COG1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 71,203,381
GRCh38 17 73,207,242
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.2791G>T
NG_008971.1:g.19209G>T
NC_000017.11:g.73207242G>T
NC_000017.10:g.71203381G>T
More... 		04/28/2017 nonsense uncertain significance CDG 2G; CDG IIg; CDGII/COG1 CEREBROCOSTOMANDIBULAR-LIKE SYNDROME; Congenital disorder of glycosylation type 2G; CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:COG1
Accession:NM_018714
Location:EXON
Amino Acid Prediction: E to * (nonsynonymous)
Amino Acid Position: 931
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATAATSPALKRLDLRDPAALFETHGAEEIRGLERQVRAEIEHKKEELRQMVGERYRDLIEAADTIGQMRRCAVGLVDAV
KATDQYCARLRQAGSAAPRPPRAQQPQQPSQEKFYSMAAQIKLLLEIPEKIWSSMEASQCLHATQLYLLCCHLHSLLQLD
SSSSRYSPVLSRFPILIRQVAAASHFRSTILHESKMLLKCQGVSDQAVAEALCSIMLLEESSPRQALTDFLLARKATIQK
LLNQPHHGAGIKAQICSLVELLATTLKQAHALFYTLPEGLLPDPALPCGLLFSTLETITGQHPAGKGTGVLQEEMKLCSW
FKHLPASIVEFQPTLRTLAHPISQEYLKDTLQKWIHMCNEDIKNGITNLLMYVKSMKGLAGIRDAMWELLTNESTNHSWD
VLCRRLLEKPLLFWEDMMQQLFLDRLQTLTKEGFDSISSSSKELLVSALQELESSTSNSPSNKHIHFEYNMSLFLWSESP
NDLPSDAAWVSVANRGQFASSGLSMKAQAISPCVQNFCSALDSKLKVKLDDLLAYLPSDDSSLPKDVSPTQAKSSAFDRY
ADAGTVQEMLRTQSVACIKHIVDCIRAELQSIEEGVQGQQDALNSAKLHSVLFMARLCQSLGELCPHLKQCILGKSESSE
KPAREFRALRKQGKVKTQEIIPTQAKWQEVKEVLLQQSVMGYQVWSSAVVKVLIHGFTQSLLLDDAGSVLATATSWDELE
IQEEAESGSSVTSKIRLPAQPSWYVQSFLFSLCQEINRVGGHALPKVTLQEMLKSCMVQVVAAYEKLSEEKQIKKEGAFP
VTQNRALQLLYDLRYLNIVLTAKGDEVKSGRSKPDSRIEKVTDHLEALIDPFDLDVFTPHLNSNLHRLVQRTSVLFGLVT
GTENQLAPRSSTFNSQEPHNILPLASSQIRFGLLPLSMTSTRKAKSTRNI*TKAQVVPPARSTAGDPTVPGSLFRQLVSE
EDNTSAPSLFKLGWLSSMTK*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000778511 CLINVAR
dbSNP (RS) rs774479733 CLINVAR
MedGen C2931011 CLINVAR
NCBI Gene COG1 CLINVAR
OMIM 606973 CLINVAR
  611209 CLINVAR
SNOMED CT 718750004 CLINVAR