RGD:156269802 Rat Genome Database

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Variant: RGD:156269802 -  Homo sapiens

RGD ID: 156269802
ClinVar ID: CV2008182
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ALDH1A3  ALDH1A3-AS1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 15 101,432,730
GRCh38 15 100,892,525
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000693.4:c.361G>A
NG_012254.1:g.17722G>A
NC_000015.10:g.100892525G>A
NC_000015.9:g.101432730G>A
More... 		07/05/2022 intron variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ALDH1A3
Accession:NM_000693
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 121
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATANGAVENGQPDRKPPALPRPIRNLEVKFTKIFINNEWHESKSGKKFATCNPSTREQICEVEEGDKPDVDKAVEAAQV
AFQRGSPWRRLDALSRGRLLHQLADLVERDRATLAALETMNTGKPFLHAFFIDLEGCIRTLRYFAGWADKIQGKTIPTDD
NVVCFTRHEPIGVCGAITPWNFPLLMLVWKLAPALCCGNTMVLKPAEQTPLTALYLGSLIKEAGFPPGVVNIVPGFGPTV
GAAISSHPQINKIAFTGSTEVGKLVKEAASRSNLKRVTLELGGKNPCIVCADADLDLAVECAHQGVFFNQGQCCTAASRV
FVEEQVYSEFVRRSVEYAKKRPVGDPFDVKTEQGPQIDQKQFDKILELIESGKKEGAKLECGGSAMEDKGLFIKPTVFSE
VTDNMRIAKEEIFGPVQPILKFKSIEEVIKRANSTDYGLTAAVFTKNLDKALKLASALESGTVWINCYNALYAQAPFGGF
KMSGNGRELGEYALAEYTEVKTVTIKLGDKNP*

Gene Symbol:ALDH1A3-AS1
Accession:NR_135827
Location:EXON;NON-CODING

Gene Symbol:ALDH1A3
Accession:NM_001293815
Location:INTRON

Gene Symbol:ALDH1A3-AS1
Accession:NR_135828
Location:INTRON;NON-CODING

Gene Symbol:ALDH1A3-AS1
Accession:NR_135831
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002714941 CLINVAR
MedGen C3554524 CLINVAR
NCBI Gene ALDH1A3 CLINVAR
  ALDH1A3-AS1 CLINVAR
OMIM 600463 CLINVAR
  615113 CLINVAR