RGD:404998514 Rat Genome Database

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Variant: RGD:404998514 -  Homo sapiens

RGD ID: 404998514
ClinVar ID: CV2850374
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CEP63  KY  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 3 134,322,512
GRCh38 3 134,603,670
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001366276.1:c.1832C>G
NM_001350859.2:c.1847C>G
NM_178554.6:c.1895C>G
NG_032870.2:g.122948G>C
More... 		03/30/2023 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:KY
Accession:NM_178554
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 632
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MELKKDINAVSIDMLLIVHSEKRRAAQGTLSDQQANPSSLLQRGGGFQGVGNGVRRWQKLEGNDFHENLVEKQHPQQPQV
ITSYNSQGTQLTVEVHPRDAMPQLLKKFSLAKRLQGDKNGNTRPRQPGGKDAHAYPWDRSSLKSMSLDLQQFEKLDIYAS
QVTAKSGLDELVSDLLQEAHTDLERVRAIWIWICHHIEYDIAAAQEKDRQAFKPTDILRTQKTNCDGYAGLFERMCRLAG
VQCMTVPGYSKGFGYQTGQSFSGEFDHAWNAVYLEGRWHLVDSTWGSGLVDTITSKFTFLYNEFYFLTHPALFIEDHFPD
NKNWQLLKPPQSLRQFENNMYHKSEFYNKGMLSAHPETSMIRTVNGKATVTIESCAPTLFMFMLNGKQEHGLLSLRKNGM
KLEVYPPTMGTHKLQIFAKGNSDIYSSVLEYTLKCNYVDMGVQLPAELHQPVGPSWFSEQMGIMKPSHPDPIIHTSDGRC
SISFSVEEGINVLASLHGDDGPITEETQRRYIFQLHREKQTELKVQLPHAGKFALKIFVKKRQEPGNYIFVFNYLVCCAN
TKVNWPMFPESFGNWGQDNELLEPLSGVLPANRNVPFKLKLHGIAKVLVKGQDTWPLTLNHEGYWEGSCSTAGCQEVYVM
VLENANHNFYSYILKYKVNAQ*

Gene Symbol:KY
Accession:NM_001350859
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 616
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MELKKDINAVSIDMLLIVHSEKRRAAQGTLSDQQANPSSLLQRGGGFQGVGNGVRRWQKLEGNDFHGTQLTVEVHPRDAM
PQLLKKFSLAKRMYDTGLQGDKNGNTRPRQPGGKDAHAYPWDRSSLKSMSLDLQQFEKLDIYASQVTAKSGLDELVSDLL
QEAHTDLERVRAIWIWICHHIEYDIAAAQEKDRQAFKPTDILRTQKTNCDGYAGLFERMCRLAGVQCMTVPGYSKGFGYQ
TGQSFSGEFDHAWNAVYLEGRWHLVDSTWGSGLVDTITSKFTFLYNEFYFLTHPALFIEDHFPDNKNWQLLKPPQSLRQF
ENNMYHKSEFYNKGMLSAHPETSMIRTVNGKATVTIESCAPTLFMFMLNGKQEHGLLSLRKNGMKLEVYPPTMGTHKLQI
FAKGNSDIYSSVLEYTLKCNYVDMGVQLPAELHQPVGPSWFSEQMGIMKPSHPDPIIHTSDGRCSISFSVEEGINVLASL
HGDDGPITEETQRRYIFQLHREKQTELKVQLPHAGKFALKIFVKKRQEPGNYIFVFNYLVCCANTKVNWPMFPESFGNWG
QDNELLEPLSGVLPANRNVPFKLKLHGIAKVLVKGQDTWPLTLNHEGYWEGSCSTAGCQEVYVMVLENANHNFYSYILKY
KVNAQ*

Gene Symbol:KY
Accession:NM_001366276
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 611
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MELKKDINAVSIDMLLIVHSEKRRAAQGTLSDQQANPSSLLQRGGGFQGVGNGVRRWQKLEGNDFHGTQLTVEVHPRDAM
PQLLKKFSLAKRLQGDKNGNTRPRQPGGKDAHAYPWDRSSLKSMSLDLQQFEKLDIYASQVTAKSGLDELVSDLLQEAHT
DLERVRAIWIWICHHIEYDIAAAQEKDRQAFKPTDILRTQKTNCDGYAGLFERMCRLAGVQCMTVPGYSKGFGYQTGQSF
SGEFDHAWNAVYLEGRWHLVDSTWGSGLVDTITSKFTFLYNEFYFLTHPALFIEDHFPDNKNWQLLKPPQSLRQFENNMY
HKSEFYNKGMLSAHPETSMIRTVNGKATVTIESCAPTLFMFMLNGKQEHGLLSLRKNGMKLEVYPPTMGTHKLQIFAKGN
SDIYSSVLEYTLKCNYVDMGVQLPAELHQPVGPSWFSEQMGIMKPSHPDPIIHTSDGRCSISFSVEEGINVLASLHGDDG
PITEETQRRYIFQLHREKQTELKVQLPHAGKFALKIFVKKRQEPGNYIFVFNYLVCCANTKVNWPMFPESFGNWGQDNEL
LEPLSGVLPANRNVPFKLKLHGIAKVLVKGQDTWPLTLNHEGYWEGSCSTAGCQEVYVMVLENANHNFYSYILKYKVNAQ
*

Gene Symbol:CEP63
Accession:NM_001353113
Location:INTRON

Gene Symbol:CEP63
Accession:XM_024453769
Location:INTRON

Gene Symbol:KY
Accession:NM_001350860
Location:INTRON

Gene Symbol:CEP63
Accession:NM_001353123
Location:INTRON

Gene Symbol:CEP63
Accession:XM_047449002
Location:INTRON

Gene Symbol:CEP63
Accession:XM_047449005
Location:INTRON

Gene Symbol:CEP63
Accession:XM_005247795
Location:INTRON

Gene Symbol:CEP63
Accession:NM_001353121
Location:INTRON

Gene Symbol:CEP63
Accession:XM_024453772
Location:INTRON

Gene Symbol:CEP63
Accession:XM_047449013
Location:INTRON

Gene Symbol:CEP63
Accession:XM_047449011
Location:INTRON

Gene Symbol:CEP63
Accession:NM_001353125
Location:INTRON

Gene Symbol:CEP63
Accession:XM_047448999
Location:INTRON

Gene Symbol:CEP63
Accession:XM_047449015
Location:INTRON

Gene Symbol:CEP63
Accession:XM_047449014
Location:INTRON

Gene Symbol:CEP63
Accession:XM_006713760
Location:INTRON

Gene Symbol:CEP63
Accession:NM_001353122
Location:INTRON

Gene Symbol:CEP63
Accession:NM_001353110
Location:INTRON

Gene Symbol:CEP63
Accession:NM_001353118
Location:INTRON

Gene Symbol:CEP63
Accession:NM_025180
Location:INTRON

Gene Symbol:CEP63
Accession:NM_001353126
Location:INTRON

Gene Symbol:CEP63
Accession:XM_047449000
Location:INTRON

Gene Symbol:CEP63
Accession:XM_047449009
Location:INTRON

Gene Symbol:CEP63
Accession:NM_001042383
Location:INTRON

Gene Symbol:CEP63
Accession:NM_001353109
Location:INTRON

Gene Symbol:CEP63
Accession:XM_047449010
Location:INTRON

Gene Symbol:CEP63
Accession:XM_017007248
Location:INTRON

Gene Symbol:CEP63
Accession:NM_001353120
Location:INTRON

Gene Symbol:CEP63
Accession:NM_001353124
Location:INTRON

Gene Symbol:CEP63
Accession:XM_024453768
Location:INTRON

Gene Symbol:CEP63
Accession:XM_047449003
Location:INTRON

Gene Symbol:CEP63
Accession:NM_001042400
Location:INTRON

Gene Symbol:CEP63
Accession:XM_047449001
Location:INTRON

Gene Symbol:CEP63
Accession:XM_047448996
Location:INTRON

Gene Symbol:CEP63
Accession:XM_005247797
Location:INTRON

Gene Symbol:CEP63
Accession:XM_047448998
Location:INTRON

Gene Symbol:CEP63
Accession:XM_017007249
Location:INTRON

Gene Symbol:CEP63
Accession:XM_024453771
Location:INTRON

Gene Symbol:CEP63
Accession:XM_047449006
Location:INTRON

Gene Symbol:CEP63
Accession:NM_001353108
Location:INTRON

Gene Symbol:CEP63
Accession:NM_001353111
Location:INTRON

Gene Symbol:CEP63
Accession:XM_047449007
Location:INTRON

Gene Symbol:CEP63
Accession:NM_001353112
Location:INTRON

Gene Symbol:CEP63
Accession:NM_001353119
Location:INTRON

Gene Symbol:CEP63
Accession:XM_047449008
Location:INTRON

Gene Symbol:CEP63
Accession:NM_001042384
Location:INTRON

Gene Symbol:CEP63
Accession:XM_017007247
Location:INTRON

Gene Symbol:CEP63
Accession:XM_024453777
Location:INTRON

Gene Symbol:KY
Accession:NM_001366277
Location:INTRON

Gene Symbol:CEP63
Accession:NM_001353117
Location:INTRON

Gene Symbol:CEP63
Accession:XM_024453778
Location:INTRON

Gene Symbol:CEP63
Accession:XR_007095731
Location:INTRON;NON-CODING

Gene Symbol:CEP63
Accession:NR_148354
Location:INTRON;NON-CODING

Gene Symbol:CEP63
Accession:NR_148353
Location:INTRON;NON-CODING

Gene Symbol:CEP63
Accession:XR_007095732
Location:INTRON;NON-CODING

Gene Symbol:CEP63
Accession:XR_007095733
Location:INTRON;NON-CODING

Gene Symbol:CEP63
Accession:XR_002959589
Location:INTRON;NON-CODING

Gene Symbol:CEP63
Accession:XR_007095735
Location:INTRON;NON-CODING

Gene Symbol:CEP63
Accession:XR_007095729
Location:INTRON;NON-CODING

Gene Symbol:CEP63
Accession:XR_007095734
Location:INTRON;NON-CODING

Gene Symbol:CEP63
Accession:NR_148355
Location:INTRON;NON-CODING

Gene Symbol:CEP63
Accession:NR_148352
Location:INTRON;NON-CODING

Gene Symbol:CEP63
Accession:XR_007095730
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003493058 CLINVAR
MedGen C4310711 CLINVAR
NCBI Gene CEP63 CLINVAR
  KY CLINVAR
OMIM 605739 CLINVAR
  614724 CLINVAR
  617114 CLINVAR