rs1300880074 Rat Genome Database

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Variant: rs1300880074 -  Homo sapiens

RGD ID: 151810280
RS ID: rs1300880074
ClinVar ID: CV1497261
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HINT1  LOC127403762  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 5 130,500,817
GRCh38 5 131,165,124
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_005340.7:c.82C>A
NG_032998.1:g.5225C>A
NC_000005.10:g.131165124G>T
NC_000005.9:g.130500817G>T
More... 		11/08/2022 missense variant uncertain significance Gamstorp-Wohlfart syndrome; MYOKYMIA, MYOTONIA, AND MUSCLE WASTING; Neuromyotonia and axonal neuropathy, autosomal recessive
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:HINT1
Accession:NM_005340
Location:EXON
Amino Acid Prediction: P to T (nonsynonymous)
Amino Acid Position: 28
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADEIAKAQVARPGGDTIFGKIIRKEITAKIIFEDDRCLAFHDISPQAPTHFLVIPKKHISQISVAEDDDESLLGHLMIV
GKKCAADLGLNKGYRMVVNEGSDGGQSVYHVHLHVLGGRQMHWPPG*

Gene Symbol:HINT1
Accession:XM_047417133
Location:EXON
Amino Acid Prediction: P to T (nonsynonymous)
Amino Acid Position: 28
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADEIAKAQVARPGGDTIFGKIIRKEITAKIIFEDDRCLAFHDISPQAPTHFLVIPKKHISQISVAEDDDESVITKEKPE
KPLGLQLPSCFPKLLHHFVSHQQ*

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

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

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

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

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001974700 CLINVAR
dbSNP (RS) rs1300880074 CLINVAR
MedGen C5700127 CLINVAR
NCBI Gene HINT1 CLINVAR
OMIM 137200 CLINVAR
  601314 CLINVAR
SNOMED CT 711406009 CLINVAR