RGD:13836148 Rat Genome Database

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Variant: RGD:13836148 -  Homo sapiens

RGD ID: 13836148
RS ID: rs1427337241
ClinVar ID: CV587418
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: VAX1  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 10 118,893,830
GRCh38 10 117,134,319
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_012317.1:g.8983G>T
NC_000010.11:g.117134319C>A
NC_000010.10:g.118893830C>A
NP_001106175.1:p.Ala232Ser
More... 		03/12/2018 intron variant uncertain significance none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:VAX1
Accession:NM_001112704
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 232
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFGKPDKMDVRCHSDAEAARVSKNAHKESRESKGAEGNLPAAFLKEPQGAFSASGAAEDCNKSKSNSAADPDYCRRILVR
DAKGSIREIILPKGLDLDRPKRTRTSFTAEQLYRLEMEFQRCQYVVGRERTELARQLNLSETQVKVWFQNRRTKQKKDQG
KDSELRSVVSETAATCSVLRLLEQGRLLSPPGLPALLPPCATGALGSALRGPSLPALGAGAAAGSAAAAAASAPGPAGAA
SPHPPAVGGAPGPGPAGPGGLHAGAPAAGHSLFSLPVPSLLGSVASRLSSAPLTMAGSLAGNLQELSARYLSSSAFEPYS
RTNNKEGAEKKALD*

Gene Symbol:VAX1
Accession:NM_199131
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000732163 CLINVAR
  RCV003165981 CLINVAR
dbSNP (RS) rs1427337241 CLINVAR
MedGen C0950123 CLINVAR
  CN517202 CLINVAR
NCBI Gene VAX1 CLINVAR
OMIM 604294 CLINVAR