RGD:10045047 Rat Genome Database

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Variant: RGD:10045047 -  Homo sapiens

RGD ID: 10045047
RS ID: rs559947967
ClinVar ID: CV188786
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AK2  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 33,478,957
GRCh38 1 33,013,356
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_133:g.28536C>A
NG_016269.1:g.28536C>A
NC_000001.11:g.33013356G>T
NC_000001.10:g.33478957G>T
More... 		11/12/2020 3 prime utr variant|missense variant pathogenic|likely pathogenic ALEUKOCYTOSIS; Congenital aleukia; DeVaal disease; HEMATOPOIETIC HYPOPLASIA, GENERALIZED; none provided; RETICULAR DYSGENESIA; Severe combined immunodeficiency with leukopenia
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:AK2
Accession:NM_001319143
Location:3UTRS;EXON

Gene Symbol:AK2
Accession:NM_001319139
Location:EXON
Amino Acid Prediction: A to D (nonsynonymous)
Amino Acid Position: 134
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRAMVASGSELGKKLKATMDAGKLVSDEMVVELIEKNLETPLCKNGFLLDGFPRTVRQAEMLDDLMEKRKEKLDSVIEF
SIPDSLLIRRITGRLIHPKSGRSYHEEFNPPKEPMKDDITGEPLIRRSDDNEKDLKIRLQAYHTQTTPLIEYYRKRGIHS
AIDASQTPDVVFASILAAFSKATS*

Gene Symbol:AK2
Accession:NM_001625
Location:EXON
Amino Acid Prediction: A to D (nonsynonymous)
Amino Acid Position: 182
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPSVPAAEPEYPKGIRAVLLGPPGAGKGTQAPRLAENFCVCHLATGDMLRAMVASGSELGKKLKATMDAGKLVSDEMVV
ELIEKNLETPLCKNGFLLDGFPRTVRQAEMLDDLMEKRKEKLDSVIEFSIPDSLLIRRITGRLIHPKSGRSYHEEFNPPK
EPMKDDITGEPLIRRSDDNEKDLKIRLQAYHTQTTPLIEYYRKRGIHSAIDASQTPDVVFASILAAFSKATCKDLVMFI*

Gene Symbol:AK2
Accession:NM_001319140
Location:EXON
Amino Acid Prediction: A to D (nonsynonymous)
Amino Acid Position: 134
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRAMVASGSELGKKLKATMDAGKLVSDEMVVELIEKNLETPLCKNGFLLDGFPRTVRQAEMLDDLMEKRKEKLDSVIEF
SIPDSLLIRRITGRLIHPKSGRSYHEEFNPPKEPMKDDITGEPLIRRSDDNEKDLKIRLQAYHTQTTPLIEYYRKRGIHS
AIDASQTPDVVFASILAAFSKATCKDLVMFI*

Gene Symbol:AK2
Accession:NM_001199199
Location:EXON
Amino Acid Prediction: A to D (nonsynonymous)
Amino Acid Position: 174
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPSVPAAEPEYPKGIRAVLLGPPGAGKGTQAPRLAENFCVCHLATGDMLRAMVASGSELGKKLKATMDAGKLVSDEMVV
ELIEKNLETPLCKNGFLLDGFPRTVRQAEMLDDLMEKRKEKLDSVIEFSIPDSLLIHPKSGRSYHEEFNPPKEPMKDDIT
GEPLIRRSDDNEKDLKIRLQAYHTQTTPLIEYYRKRGIHSAIDASQTPDVVFASILAAFSKATS*

Gene Symbol:AK2
Accession:NM_013411
Location:EXON
Amino Acid Prediction: A to D (nonsynonymous)
Amino Acid Position: 182
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPSVPAAEPEYPKGIRAVLLGPPGAGKGTQAPRLAENFCVCHLATGDMLRAMVASGSELGKKLKATMDAGKLVSDEMVV
ELIEKNLETPLCKNGFLLDGFPRTVRQAEMLDDLMEKRKEKLDSVIEFSIPDSLLIRRITGRLIHPKSGRSYHEEFNPPK
EPMKDDITGEPLIRRSDDNEKDLKIRLQAYHTQTTPLIEYYRKRGIHSAIDASQTPDVVFASILAAFSKATS*

Gene Symbol:AK2
Accession:NM_001319142
Location:EXON
Amino Acid Prediction: A to D (nonsynonymous)
Amino Acid Position: 140
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPSVPAAEPEYPKGIRAVLLGPPGAGKGTQVSDEMVVELIEKNLETPLCKNGFLLDGFPRTVRQAEMLDDLMEKRKEKL
DSVIEFSIPDSLLIRRITGRLIHPKSGRSYHEEFNPPKEPMKDDITGEPLIRRSDDNEKDLKIRLQAYHTQTTPLIEYYR
KRGIHSAIDASQTPDVVFASILAAFSKATS*

Gene Symbol:AK2
Accession:NM_001319141
Location:EXON
Amino Acid Prediction: A to D (nonsynonymous)
Amino Acid Position: 182
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPSVPAAEPEYPKGIRAVLLGPPGAGKGTQAPRLAENFCVCHLATGDMLRAMVASGSELGKKLKATMDAGKLVSDEMVV
ELIEKNLETPLCKNGFLLDGFPRTVRQAEMLDDLMEKRKEKLDSVIEFSIPDSLLIRRITGRLIHPKSGRSYHEEFNPPK
EPMKDDITGEPLIRRSDDNEKDLKIRLQAYHTQTTPLIEYYRKRGIHSAIDASQTPDVVFASILAAFSKATC*

Gene Symbol:AK2
Accession:NR_134976
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000171151 CLINVAR
  RCV001283780 CLINVAR
dbSNP (RS) rs559947967 CLINVAR
MedGen C0272167 CLINVAR
  C3661900 CLINVAR
NCBI Gene AK2 CLINVAR
OMIM 103020 CLINVAR
  267500 CLINVAR
SNOMED CT 111584000 CLINVAR