RGD:152032822 Rat Genome Database

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Variant: RGD:152032822 -  Homo sapiens

RGD ID: 152032822
RS ID: rs2145770842
ClinVar ID: CV1643189
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HMOX1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 22 35,785,889
GRCh38 22 35,389,896
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.669T>C
NG_023030.1:g.13830T>C
NC_000022.11:g.35389896T>C
NC_000022.10:g.35785889T>C
More... 		05/31/2021 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:HMOX1
Accession:NM_002133
Location:EXON
Amino Acid Prediction: H to H (synonymous)
Amino Acid Position: 223
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 RCV002205053 CLINVAR
dbSNP (RS) rs2145770842 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene HMOX1 CLINVAR
OMIM 141250 CLINVAR