RGD:405207824 Rat Genome Database

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Variant: RGD:405207824 -  Homo sapiens

RGD ID: 405207824
ClinVar ID: CV2908985
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HMOX1  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 22 35,779,117
GRCh38 22 35,383,124
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.42A>T
NG_023030.1:g.7058A>T
NC_000022.11:g.35383124A>T
NC_000022.10:g.35779117A>T
More...
05/31/2023 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:HMOX1
Accession:NM_002133
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 14
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MERPQPDSMPQDLSEALKEATKEVHTQAENAEFMRNFQKGQVTRDGFKLVMASLYHIYVALEEEIERNKESPVFAPVYFP
EELHRKAALEQDLAFWYGPRWQEVIPYTPAMQRYVKRLHEVGRTEPELLVAHAYTRYLGDLSGGQVLKKIAQKALDLPSS
GEGLAFFTFPNIASATKFKQLYRSRMNSLEMTPAVRQRVIEEAKTAFLLNIQLFEELQELLTHDTKDQSPSRAPGLRQRA
SNKVQDSAPVETPRGKPPLNTRSQAPLLRWVLTLSFLVATVAVGLYAM*

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003566657 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene HMOX1 CLINVAR
OMIM 141250 CLINVAR