RGD:39456321 Rat Genome Database

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Variant: RGD:39456321 -  Homo sapiens

RGD ID: 39456321
RS ID: rs1732848653
ClinVar ID: CV966583
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LRAT  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 4 155,665,959
GRCh38 4 154,744,807
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_009110.1:g.5797T>C
NM_001301645.2:c.481T>C
NM_004744.5:c.481T>C
NC_000004.12:g.154744807T>C
More... 		missense variant likely pathogenic
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:LRAT
Accession:XM_047416405
Location:EXON
Amino Acid Prediction: C to R (nonsynonymous)
Amino Acid Position: 161
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKNPMLEVVSLLLEKLLLISNFTLFSSGAAGEDKGRNSFYETSSFHRGDVLEVPRTHLTHYGIYLGDNRVAHMMPDILLA
LTDDMGRTQKVVSNKRLILGVIVKVASIRVDTVEDFAYGANILVNHLDESLQKKALLNEEVARRAEKLLGFTPYSLLWNN
REHFVTYCRYGTPISPQSDKHVEEYRGLVHQTSQLILRTI*

Gene Symbol:LRAT
Accession:NM_001301645
Location:EXON
Amino Acid Prediction: C to R (nonsynonymous)
Amino Acid Position: 161
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKNPMLEVVSLLLEKLLLISNFTLFSSGAAGEDKGRNSFYETSSFHRGDVLEVPRTHLTHYGIYLGDNRVAHMMPDILLA
LTDDMGRTQKVVSNKRLILGVIVKVASIRVDTVEDFAYGANILVNHLDESLQKKALLNEEVARRAEKLLGFTPYSLLWNN
REHFVTYCRYGTPISPQSDKFCETVKIIIRDQRSVLASAVLGLASIVCTGLVSYTTLPAIFIPFFLWMAG*

Gene Symbol:LRAT
Accession:NM_004744
Location:EXON
Amino Acid Prediction: C to R (nonsynonymous)
Amino Acid Position: 161
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKNPMLEVVSLLLEKLLLISNFTLFSSGAAGEDKGRNSFYETSSFHRGDVLEVPRTHLTHYGIYLGDNRVAHMMPDILLA
LTDDMGRTQKVVSNKRLILGVIVKVASIRVDTVEDFAYGANILVNHLDESLQKKALLNEEVARRAEKLLGFTPYSLLWNN
REHFVTYCRYGTPISPQSDKFCETVKIIIRDQRSVLASAVLGLASIVCTGLVSYTTLPAIFIPFFLWMAG*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001257116 CLINVAR
dbSNP (RS) rs1732848653 CLINVAR
MedGen C2750063 CLINVAR
NCBI Gene LRAT CLINVAR
OMIM 604863 CLINVAR
  613341 CLINVAR