RGD:13798589 Rat Genome Database

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Variant: RGD:13798589 -  Homo sapiens

RGD ID: 13798589
RS ID: rs1561537267
ClinVar ID: CV551402
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HINT1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 5 130,498,272
GRCh38 5 131,162,579
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_032998.1:g.7770A>G
NP_005331.1:p.Asp70Gly
NC_000005.10:g.131162579T>C
NC_000005.9:g.130498272T>C
More... 		missense variant likely pathogenic
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:HINT1
Accession:NM_005340
Location:EXON
Amino Acid Prediction: D to G (nonsynonymous)
Amino Acid Position: 70
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADEIAKAQVARPGGDTIFGKIIRKEIPAKIIFEDDRCLAFHDISPQAPTHFLVIPKKHISQISVAEDDGESLLGHLMIV
GKKCAADLGLNKGYRMVVNEGSDGGQSVYHVHLHVLGGRQMHWPPG*

Gene Symbol:HINT1
Accession:XM_047417133
Location:EXON
Amino Acid Prediction: D to G (nonsynonymous)
Amino Acid Position: 70
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADEIAKAQVARPGGDTIFGKIIRKEIPAKIIFEDDRCLAFHDISPQAPTHFLVIPKKHISQISVAEDDGESVITKEKPE
KPLGLQLPSCFPKLLHHFVSHQQ*

Gene Symbol:HINT1
Accession:NR_134495
Location:EXON;NON-CODING

Gene Symbol:HINT1
Accession:NR_073488
Location:EXON;NON-CODING

Gene Symbol:HINT1
Accession:NR_024611
Location:EXON;NON-CODING

Gene Symbol:HINT1
Accession:NR_134494
Location:EXON;NON-CODING

Gene Symbol:HINT1
Accession:NR_024610
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000678468 CLINVAR
dbSNP (RS) rs1561537267 CLINVAR
MedGen C1842587 CLINVAR
NCBI Gene HINT1 CLINVAR
OMIM 601314 CLINVAR