RGD:8633320 Rat Genome Database

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Variant: RGD:8633320 -  Homo sapiens

RGD ID: 8633320
ClinVar ID: CV88534
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CAAP1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 26,842,553
GRCh38 9 26,842,555
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001167575.1:c.397G>A
NM_024828.3:c.832G>A
NC_000009.12:g.26842555C>T
NC_000009.11:g.26842553C>T
More...
missense|missense variant not provided Malignant melanoma, somatic

Variant Details
Variant Transcripts
Gene Symbol:CAAP1
Accession:NM_024828
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 278
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTGKKSSREKRRKRSSQEAAAALAAPDIVPALASGSSGSTSGCGSAGGCGSVSCCGNANFSGSVTGGGSGGSCWGGSSVE
RSERRKRRSTDSSSVSGSLQQETKYILPTLEKELFLAEHSDLEEGGLDLTVSLKPVSFYISDKKEMLQQCFCIIGEKKLQ
KMLPDVLKNCSIEEIKKLCQEQLELLSEKKILKILEGDNGMDSDMEEEADDGSKMGSDLVSQQDICIDSASSVRENKQPE
GLELKQGKGEDSDVLSINADAYDSDIEGPCNEEAAAPKAPENTVQSEAGQIDDLEKDIEKSVNEILGLAESSPNEPKAAT
LAVPPPEDVQPSAQQLELLELEMRARAIKALMKAGDIKKPA*

Gene Symbol:CAAP1
Accession:NM_001167575
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 133
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLQQCFCIIGEKKLQKMLPDVLKNCSIEEIKKLCQEQLELLSEKKILKILEGDNGMDSDMEEEADDGSKMGSDLVSQQDI
CIDSASSVRENKQPEGLELKQGKGEDSDVLSINADAYDSDIEGPCNEEAAAPKAPENTVQSEAGQIDDLEKDIEKSVNEI
LGLAESSPNEPKAATLAVPPPEDVQPSAQQLELLELEMRARAIKALMKAGDIKKPA*

Gene Symbol:CAAP1
Accession:XM_047423896
Location:INTRON

Variant Samples