RGD:151884450 Rat Genome Database

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Variant: RGD:151884450 -  Homo sapiens

RGD ID: 151884450
RS ID: rs2145773479
ClinVar ID: CV1452656
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HMOX1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 22 35,789,588
GRCh38 22 35,393,595
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_002133.3:c.864G>A
NG_023030.1:g.17529G>A
NC_000022.11:g.35393595G>A
NC_000022.10:g.35789588G>A
More... 		08/31/2021 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:HMOX1
Accession:NM_002133
Location:EXON
Amino Acid Prediction: M to I (nonsynonymous)
Amino Acid Position: 288
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MERPQPDSMPQDLSEALKEATKEVHTQAENAEFMRNFQKGQVTRDGFKLVMASLYHIYVALEEEIERNKESPVFAPVYFP
EELHRKAALEQDLAFWYGPRWQEVIPYTPAMQRYVKRLHEVGRTEPELLVAHAYTRYLGDLSGGQVLKKIAQKALDLPSS
GEGLAFFTFPNIASATKFKQLYRSRMNSLEMTPAVRQRVIEEAKTAFLLNIQLFEELQELLTHDTKDQSPSRAPGLRQRA
SNKVQDSAPVETPRGKPPLNTRSQAPLLRWVLTLSFLVATVAVGLYAI*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002037554 CLINVAR
dbSNP (RS) rs2145773479 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene HMOX1 CLINVAR
OMIM 141250 CLINVAR