RGD:15196068 Rat Genome Database

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Variant: RGD:15196068 -  Homo sapiens

RGD ID: 15196068
RS ID: rs1288730009
ClinVar ID: CV773117
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ADA  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 20 43,254,301
GRCh38 20 44,625,660
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NR_136160.2:n.479G>A
NM_001322051.2:c.387G>A
NM_001322050.2:c.73+796G>A
NM_000022.4:c.387G>A
More... 		07/06/2018 intron variant likely benign ADA deficiency; ADA-SCID; Adenosine deaminase deficient severe combined immunodeficiency; SCID DUE TO ADA DEFICIENCY, EARLY-ONSET; Severe combined immunodeficiency due to ADA deficiency; Severe combined immunodeficiency due to adenosine deaminase deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ADA
Accession:NM_001322051
Location:EXON
Amino Acid Prediction: V to V (synonymous)
Amino Acid Position: 129
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQTPAFDKPKVELHVHLDGSIKPETILYYGRRRGIALPANTAEGLLNVIGMDKPLTLPDFLAKFDYYMPAIAGCREAIK
RIAYEFVEMKAKEGVVYVEVRYSPHLLANSKVEPIPWNQAEGDLTPDEVVALVGQGLQEGERDFGVKARSILCCMRHQPN
WSPKVVELCKKYQQQTVVAIDLAGDETIPGSSLLPGHVQAYQAVDILKTERLGHGYHTLEDQALYNRLRQENMHFEICPW
SSYLTGAWKPDTEHAVIRLKNDQANYSLNTDDPLIFKSTLDTDYQMTKRDMGFTEEEFKRLNINAAKSSFLPEDEKRELL
DLLYKAYGMPPSASAGQNL*

Gene Symbol:ADA
Accession:NM_000022
Location:EXON
Amino Acid Prediction: V to V (synonymous)
Amino Acid Position: 129
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQTPAFDKPKVELHVHLDGSIKPETILYYGRRRGIALPANTAEGLLNVIGMDKPLTLPDFLAKFDYYMPAIAGCREAIK
RIAYEFVEMKAKEGVVYVEVRYSPHLLANSKVEPIPWNQAEGDLTPDEVVALVGQGLQEGERDFGVKARSILCCMRHQPN
WSPKVVELCKKYQQQTVVAIDLAGDETIPGSSLLPGHVQAYQEAVKSGIHRTVHAGEVGSAEVVKEAVDILKTERLGHGY
HTLEDQALYNRLRQENMHFEICPWSSYLTGAWKPDTEHAVIRLKNDQANYSLNTDDPLIFKSTLDTDYQMTKRDMGFTEE
EFKRLNINAAKSSFLPEDEKRELLDLLYKAYGMPPSASAGQNL*

Gene Symbol:ADA
Accession:NR_136160
Location:EXON;NON-CODING

Gene Symbol:ADA
Accession:NM_001322050
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000934115 CLINVAR
dbSNP (RS) rs1288730009 CLINVAR
MedGen C1863236 CLINVAR
NCBI Gene ADA CLINVAR
OMIM 102700 CLINVAR
  608958 CLINVAR