rs200524130 Rat Genome Database

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Variant: rs200524130 -  Homo sapiens

RGD ID: 126916407
RS ID: rs200524130
ClinVar ID: CV1042626
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LRAT  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 4 155,670,178
GRCh38 4 154,749,026
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001301645.2:c.583G>A
NM_004744.5:c.583G>A
NG_009110.1:g.10016G>A
NC_000004.12:g.154749026G>A
More... 		07/25/2022 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:LRAT
Accession:NM_004744
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 195
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKNPMLEVVSLLLEKLLLISNFTLFSSGAAGEDKGRNSFYETSSFHRGDVLEVPRTHLTHYGIYLGDNRVAHMMPDILLA
LTDDMGRTQKVVSNKRLILGVIVKVASIRVDTVEDFAYGANILVNHLDESLQKKALLNEEVARRAEKLLGFTPYSLLWNN
CEHFVTYCRYGTPISPQSDKFCETVKIIIRDQRSILASAVLGLASIVCTGLVSYTTLPAIFIPFFLWMAG*

Gene Symbol:LRAT
Accession:NM_001301645
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 195
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKNPMLEVVSLLLEKLLLISNFTLFSSGAAGEDKGRNSFYETSSFHRGDVLEVPRTHLTHYGIYLGDNRVAHMMPDILLA
LTDDMGRTQKVVSNKRLILGVIVKVASIRVDTVEDFAYGANILVNHLDESLQKKALLNEEVARRAEKLLGFTPYSLLWNN
CEHFVTYCRYGTPISPQSDKFCETVKIIIRDQRSILASAVLGLASIVCTGLVSYTTLPAIFIPFFLWMAG*

Gene Symbol:LRAT
Accession:XM_047416405
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001360558 CLINVAR
dbSNP (RS) rs200524130 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene LRAT CLINVAR
OMIM 604863 CLINVAR