RGD:153349307 Rat Genome Database

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Variant: RGD:153349307 -  Homo sapiens

RGD ID: 153349307
RS ID: rs893482697
ClinVar ID: CV1694191
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KYNU  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 143,712,377
GRCh38 2 142,954,808
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001032998.2:c.374-2A>G
NM_001199241.2:c.374-2A>G
NM_003937.3:c.374-2A>G
NG_023254.1:g.82183A>G
More... 		splice acceptor variant not provided none provided

Variant Details
Variant Transcripts
Gene Symbol:KYNU
Accession:NM_001199241
Location:INTRON

Gene Symbol:KYNU
Accession:NM_003937
Location:INTRON

Gene Symbol:KYNU
Accession:NM_001032998
Location:INTRON

Gene Symbol:KYNU
Accession:XM_017005217
Location:INTRON

Gene Symbol:KYNU
Accession:XM_047446250
Location:INTRON

Gene Symbol:KYNU
Accession:XM_047446252
Location:INTRON

Gene Symbol:KYNU
Accession:XM_047446251
Location:INTRON

Gene Symbol:KYNU
Accession:XM_047446253
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002275699 CLINVAR
dbSNP (RS) rs893482697 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene KYNU CLINVAR
OMIM 605197 CLINVAR