rs774720405 Rat Genome Database

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Variant: rs774720405 -  Homo sapiens

RGD ID: 11622293
RS ID: rs774720405
ClinVar ID: CV329743
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COG1  LOC126862634  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 17 71,196,101
GRCh38 17 73,199,962
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.1011C>G
NM_018714.2:c.1011C>G
NG_008971.1:g.11929C>G
NC_000017.11:g.73199962C>G
More... 		06/14/2016 synonymous variant uncertain significance Carbohydrate-deficient glycoprotein syndrome; Congenital disorders of glycosylation
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:COG1
Accession:NM_018714
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 337
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATAATSPALKRLDLRDPAALFETHGAEEIRGLERQVRAEIEHKKEELRQMVGERYRDLIEAADTIGQMRRCAVGLVDAV
KATDQYCARLRQAGSAAPRPPRAQQPQQPSQEKFYSMAAQIKLLLEIPEKIWSSMEASQCLHATQLYLLCCHLHSLLQLD
SSSSRYSPVLSRFPILIRQVAAASHFRSTILHESKMLLKCQGVSDQAVAEALCSIMLLEESSPRQALTDFLLARKATIQK
LLNQPHHGAGIKAQICSLVELLATTLKQAHALFYTLPEGLLPDPALPCGLLFSTLETITGQHPAGKGTGVLQEEMKLCSW
FKHLPASIVEFQPTLRTLAHPISQEYLKDTLQKWIHMCNEDIKNGITNLLMYVKSMKGLAGIRDAMWELLTNESTNHSWD
VLCRRLLEKPLLFWEDMMQQLFLDRLQTLTKEGFDSISSSSKELLVSALQELESSTSNSPSNKHIHFEYNMSLFLWSESP
NDLPSDAAWVSVANRGQFASSGLSMKAQAISPCVQNFCSALDSKLKVKLDDLLAYLPSDDSSLPKDVSPTQAKSSAFDRY
ADAGTVQEMLRTQSVACIKHIVDCIRAELQSIEEGVQGQQDALNSAKLHSVLFMARLCQSLGELCPHLKQCILGKSESSE
KPAREFRALRKQGKVKTQEIIPTQAKWQEVKEVLLQQSVMGYQVWSSAVVKVLIHGFTQSLLLDDAGSVLATATSWDELE
IQEEAESGSSVTSKIRLPAQPSWYVQSFLFSLCQEINRVGGHALPKVTLQEMLKSCMVQVVAAYEKLSEEKQIKKEGAFP
VTQNRALQLLYDLRYLNIVLTAKGDEVKSGRSKPDSRIEKVTDHLEALIDPFDLDVFTPHLNSNLHRLVQRTSVLFGLVT
GTENQLAPRSSTFNSQEPHNILPLASSQIRFGLLPLSMTSTRKAKSTRNIETKAQVVPPARSTAGDPTVPGSLFRQLVSE
EDNTSAPSLFKLGWLSSMTK*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000358768 CLINVAR
dbSNP (RS) rs774720405 CLINVAR
MedGen C0282577 CLINVAR
NCBI Gene COG1 CLINVAR
  LOC126862634 CLINVAR
OMIM 606973 CLINVAR
SNOMED CT 238049009 CLINVAR