RGD:126755671 Rat Genome Database

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Variant: RGD:126755671 -  Homo sapiens

RGD ID: 126755671
ClinVar ID: CV1002905
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CPT2  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 53,662,746
GRCh38 1 53,197,074
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000098.3:c.131A>C
NM_001330589.2:c.131A>C
NC_000001.11:g.53197074A>C
NC_000001.10:g.53662746A>C
More... 		10/05/2020 missense variant uncertain significance Carnitine palmitoyl transferase 2 deficiency; Carnitine palmitoyltransferase deficiency type 2

Variant Details
Variant Transcripts
Gene Symbol:CPT2
Accession:NM_000098
Location:EXON
Amino Acid Prediction: H to P (nonsynonymous)
Amino Acid Position: 44
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVPRLLLRAWPRGPAVGPGAPSRPLSAGSGPGQYLQRSIVPTMPYQDSLPRLPIPKLEDTIRRYLSAQKPLLNDGQFRKT
EQFCKSFENGIGKELHEQLVALDKQNKHTSYISGPWFDMYLSARDSVVLNFNPFMAFNPDPKSEYNDQLTRATNMTVSAI
RFLKTLRAGLLEPEVFHLNPAKSDTITFKRLIRFVPSSLSWYGAYLVNAYPLDMSQYFRLFNSTRLPKPSRDELFTDDKA
RHLLVLRKGNFYIFDVLDQDGNIVSPSEIQAHLKYILSDSSPAPEFPLAYLTSENRDIWAELRQKLMSSGNEESLRKVDS
AVFCLCLDDFPIKDLVHLSHNMLHGDGTNRWFDKSFNLIIAKDGSTAVHFEHSWGDGVAVLRFFNEVFKDSTQTPAVTPQ
SQPATTDSTVTVQKLNFELTDALKTGITAAKEKFDATMKTLTIDCVQFQRGGKEFLKKQKLSPDAVAQLAFQMAFLRQYG
QTVATYESCSTAAFKHGRTETIRPASVYTKRCSEAFVREPSRHSAGELQQMMVECSKYHGQLTKEAAMGQGFDRHLFALR
HLAAAKGIILPELYLDPAYGQINHNVLSTSTLSSPAVNLGGFAPVVSDGFGVGYAVHDNWIGCNVSSYPGRNAREFLQCV
EKALEDMFDALEGKSIKS*

Gene Symbol:CPT2
Accession:NM_001330589
Location:EXON
Amino Acid Prediction: H to P (nonsynonymous)
Amino Acid Position: 44
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVPRLLLRAWPRGPAVGPGAPSRPLSAGSGPGQYLQRSIVPTMPYQDSLPRLPIPKLEDTIRRYLSAQKPLLNDGQFRKT
EQFCKSFENGIGKELHEQLVALDKQNKHTSYISGPWFDMYLSARDSVVLNFNPFMAFNPDPKSEYNDQLTRATNMTVSAI
RFLKTLRAGLLEPEVFHLNPAKSDTITFKRLIRFVPSSLSWYGAYLVNAYPLDMSQYFRLFNSTRLPKPSRDELFTDDKA
RHLLVLRKGNFYIFDVLDQDGNIVSPSEIQAHLKYILSDSSPAPEFPLAYLTSENRDIWAELRQKLMSSGNEESLRKVDS
AVFCLCLDDFPIKDLVHLSHNMLHGDGTNRWFDKSFNLIIAKDGSTAVHFEHSWGDGVAVLRFFNEVFKDSTQTPAVTPQ
SQPATTDSTVTVQKLNFELTDALKTGITAAKEKFDATMKTLTIDCVQFQRGGKEFLKKQKLSPDAVAQLAFQMAFLRQYG
QTVATYESCSTAAFKHGRTETIRPASVYTKRCSEAFVREPSRHSAGQGFDRHLFALRHLAAAKGIILPELYLDPAYGQIN
HNVLSTSTLSSPAVNLGGFAPVVSDGFGVGYAVHDNWIGCNVSSYPGRNAREFLQCVEKALEDMFDALEGKSIKS*
Variant Samples