RGD:151349711 Rat Genome Database

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Variant: RGD:151349711 -  Homo sapiens

RGD ID: 151349711
RS ID: rs74522986
ClinVar ID: CV1321639
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AK1  ST6GALNAC4-ST6GALNAC6-AK1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 130,635,148
GRCh38 9 127,872,869
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1187t1:c.44-16G>A
NM_000476.3:c.44-16G>A
NM_001318121.1:c.44-16G>A
NM_001318122.2:c.92-16G>A
More... 		09/23/2022 intron variant benign|likely benign none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:AK1
Accession:NM_001318121
Location:INTRON

Gene Symbol:AK1
Accession:NM_001318122
Location:INTRON

Gene Symbol:AK1
Accession:NM_000476
Location:INTRON

Gene Symbol:ST6GALNAC4-ST6GALNAC6-AK1
Accession:NR_174624
Location:INTRON;NON-CODING

Gene Symbol:ST6GALNAC4-ST6GALNAC6-AK1
Accession:NR_174626
Location:INTRON;NON-CODING

Gene Symbol:ST6GALNAC4-ST6GALNAC6-AK1
Accession:NR_174627
Location:INTRON;NON-CODING

Gene Symbol:ST6GALNAC4-ST6GALNAC6-AK1
Accession:NR_174628
Location:INTRON;NON-CODING

Gene Symbol:ST6GALNAC4-ST6GALNAC6-AK1
Accession:NR_174625
Location:INTRON;NON-CODING

Gene Symbol:ST6GALNAC4-ST6GALNAC6-AK1
Accession:NR_174629
Location:INTRON;NON-CODING

Gene Symbol:ST6GALNAC4-ST6GALNAC6-AK1
Accession:NR_174630
Location:INTRON;NON-CODING

Gene Symbol:ST6GALNAC4-ST6GALNAC6-AK1
Accession:NR_174632
Location:INTRON;NON-CODING

Gene Symbol:ST6GALNAC4-ST6GALNAC6-AK1
Accession:NR_174631
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001802623 CLINVAR
  RCV002542349 CLINVAR
dbSNP (RS) rs74522986 CLINVAR
MedGen C2675459 CLINVAR
  C3661900 CLINVAR
NCBI Gene AK1 CLINVAR
  ST6GALNAC4-ST6GALNAC6-AK1 CLINVAR
OMIM 103000 CLINVAR
  612631 CLINVAR