rs148941976 Rat Genome Database

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Variant: rs148941976 -  Homo sapiens

RGD ID: 151804510
RS ID: rs148941976
ClinVar ID: CV1432350
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ARIH1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 15 72,837,234
GRCh38 15 72,544,893
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_005744.5:c.517C>T
NC_000015.10:g.72544893C>T
NC_000015.9:g.72837234C>T
NP_005735.2:p.Arg173Cys
 03/20/2023 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:ARIH1
Accession:NM_005744
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 173
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDSDEGYNYEFDEDEECSEEDSGAEEEEDEDDDEPDDDTLDLGEVELVEPGLGVGGERDGLLCGETGGGGGSALGPGGGG
GGGGGGGGGGPGHEQEEDYRYEVLTAEQILQHMVECIREVNEVIQNPATITRILLSHFNWDKEKLMERYFDGNLEKLFAE
CHVINPSKKSRTCQMNTRSSAQDMPCQICYLNYPNSYFTGLECGHKFCMQCWSEYLTTKIMEEGMGQTISCPAHGCDILV
DDNTVMRLITDSKVKLKYQHLITNSFVECNRLLKWCPAPDCHHVVKVQYPDAKPVRCKCGRQFCFNCGENWHDPVKCKWL
KKWIKKCDDDSETSNWIAANTKECPKCHVTIEKDGGCNHMVCRNQNCKAEFCWVCLGPWEPHGSAWYNCNRYNEDDAKAA
RDAQERSRAALQRYLFYCNRYMNHMQSLRFEHKLYAQVKQKMEEMQQHNMSWIEVQFLKKAVDVLCQCRATLMYTYVFAF
YLKKNNQSIIFENNQADLENATEVLSGYLERDISQDSLQDIKQKVQDKYRYCESRRRVLLQHVHEGYEKDLWEYIED*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001991254 CLINVAR
dbSNP (RS) rs148941976 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene ARIH1 CLINVAR
OMIM 605624 CLINVAR