RGD:26918019 Rat Genome Database

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Variant: RGD:26918019 -  Homo sapiens

RGD ID: 26918019
RS ID: rs143842386
ClinVar ID: CV849320
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CACNG2-DT  IFT27  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 22 37,159,993
GRCh38 22 36,763,949
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_006860.5:c.319C>T
NM_001177701.3:c.322C>T
NM_001363003.2:c.322C>T
NG_034205.1:g.17185C>T
More... 		10/24/2022 missense variant likely benign|uncertain significance none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:IFT27
Accession:NM_001363003
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 108
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVKLAAKCILAGDPAVGKTALAQIFRSDGAHFQKSYTLTTGMDLVVKTVPVPDTGDSVELFIFDSAGKELFSEMLDKLWE
SPNVLCLVYDVTNEESFNNCSKWLEKARSQAPGISLPGVLVGNKTDLAGRRAVDSAEARAWALGQGLECFETSVKEMENF
EAPFHCLAKQFHQLYREKVEVFRALA*

Gene Symbol:IFT27
Accession:NM_001177701
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 108
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVKLAAKCILAGDPAVGKTALAQIFRSDGAHFQKSYTLTTGMDLVVKTVPVPDTGDSVELFIFDSAGKELFSEMLDKLWE
SPNVLCLVYDVTNEESFNNCSKWLEKARSQAPGISLPGVLVGNKTDLAGRRAVDSAEARAWALGQGLECFETSVKEMENF
EAPFHCLAKQFHQLYREKVEVFRALA*

Gene Symbol:IFT27
Accession:XM_047441074
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 108
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVKLAAKCILAGDPAVGKTALAQIFRSDGAHFQKSYTLTTGMDLVVKTVPVPDTGDSVELFIFDSAGKELFSEMLDKLWE
SPNVLCLVYDVTNEESFNNCSKWLEKARSQAPGISLPERDGKLRSPFPLPCQAVPPAVPGEGGGFPGPGMTSWSRSCCTT
GEDRITSALLIYNDGFK*

Gene Symbol:IFT27
Accession:NM_006860
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 107
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVKLAAKCILADPAVGKTALAQIFRSDGAHFQKSYTLTTGMDLVVKTVPVPDTGDSVELFIFDSAGKELFSEMLDKLWES
PNVLCLVYDVTNEESFNNCSKWLEKARSQAPGISLPGVLVGNKTDLAGRRAVDSAEARAWALGQGLECFETSVKEMENFE
APFHCLAKQFHQLYREKVEVFRALA*

Gene Symbol:IFT27
Accession:NR_033531
Location:INTRON;NON-CODING

Gene Symbol:CACNG2-DT
Accession:NR_134623
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001042715 CLINVAR
  RCV003906155 CLINVAR
dbSNP (RS) rs143842386 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene 105373021 CLINVAR
  IFT27 CLINVAR
OMIM 615870 CLINVAR