RGD:156182751 Rat Genome Database

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Variant: RGD:156182751 -  Homo sapiens

RGD ID: 156182751
ClinVar ID: CV2288273
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: WBP11  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 14,943,660
GRCh38 12 14,790,726
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_016312.3:c.1039C>T
NC_000012.12:g.14790726G>A
NC_000012.11:g.14943660G>A
NM_016312.2:c.1039C>T
More... 		06/29/2022 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:
Accession:
Location:5UTRS;INTRON

Gene Symbol:WBP11
Accession:NM_016312
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 347
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRRSTSSTKSGKFMNPTDQARKEARKRELKKNKKQRMMVRAAVLKMKDPKQIIRDMEKLDEMEFNPVQQPQLNEKVLKD
KRKKLRETFERILRLYEKENPDIYKELRKLEVEYEQKRAQLSQYFDAVKNAQHVEVESIPLPDMPHAPSNILIQDIPLPG
AQPPSILKKTSAYGPPTRAVSILPLLGHGVPRLPPGRKPPGPPPGPPPPQVVQMYGRKVGFALDLPPRRRDEDMLYSPEL
AQRGHDDDVSSTSEDDGYPEDMDQDKHDDSTDDSDTDKSDGESDGDEFVHRDNGERDNNEEKKSGLSVRFADMPGKSRKK
KKNMKELTPLQAMMLRMAGQEIPEEGREVEEFSEDDDEDDSDDSEAEKQSQKQHKEESHSDGTSTASSQQQAPPQSVPPS
QIQAPPMPGPPPLGPPPAPPLRPPGPPTGLPPGPPPGAPPFLRPPGMPGLRGPLPRLLPPGPPPGRPPGPPPGPPPGLPP
GPPPRGPPPRLPPPAPPGIPPPRPGMMRPPLVPPLGPAPPGLFPPAPLPNPGVLSAPPNLIQRPKADDTSAATIEKKATA
TISAKPQITNPKAEITRFVPTALRVRRENKGATAAPQRKSEDDSAVPLAKAAPKSGPSVPVSVQTKDDVYEAFMKEMEGL
L*

Gene Symbol:C12orf60
Accession:NM_175874
Location:INTRON

Gene Symbol:C12orf60
Accession:XM_005253322
Location:INTRON

Gene Symbol:C12orf60
Accession:XM_011520569
Location:INTRON

Gene Symbol:C12orf60
Accession:XM_011520568
Location:INTRON

Gene Symbol:C12orf60
Accession:XM_017018873
Location:INTRON

Gene Symbol:C12orf60
Accession:XM_017018874
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON;NON-CODING

Gene Symbol:
Accession:
Location:INTRON;NON-CODING

Gene Symbol:
Accession:
Location:INTRON;NON-CODING

Gene Symbol:
Accession:
Location:INTRON;NON-CODING

Gene Symbol:
Accession:
Location:INTRON;NON-CODING

Gene Symbol:
Accession:
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002873767 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene C12orf60 CLINVAR
  WBP11 CLINVAR
OMIM 618083 CLINVAR