RGD:329372451 Rat Genome Database

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Variant: RGD:329372451 -  Homo sapiens

RGD ID: 329372451
ClinVar ID: CV2455218
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AK1  ST6GALNAC4-ST6GALNAC6-AK1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 130,635,015
GRCh38 9 127,872,736
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1187t1:c.161G>T
NM_000476.3:c.161G>T
NM_001318121.1:c.161G>T
NM_001318122.2:c.209G>T
More... 		02/10/2023 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:AK1
Accession:NM_000476
Location:EXON
Amino Acid Prediction: G to D (nonsynonymous)
Amino Acid Position: 54
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEKLKKTKIIFVVGGPGSGKGTQCEKIVQKYGYTHLSTGDLLRSEVSSGSARDKKLSEIMEKGQLVPLETVLDMLRDAM
VAKVNTSKGFLIDGYPREVQQGEEFERRIGQPTLLLYVDAGPETMTQRLLKRGETSGRVDDNEETIKKRLETYYKATEPV
IAFYEKRGIVRKVNAEGSVDSVFSQVCTHLDALK*

Gene Symbol:AK1
Accession:NM_001318121
Location:EXON
Amino Acid Prediction: G to D (nonsynonymous)
Amino Acid Position: 54
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEKLKKTKIIFVVGGPGSGKGTQCEKIVQKYGYTHLSTGDLLRSEVSSGSARDKKLSEIMEKGQLVPLETVLDMLRDAM
VAKVNTSKGFLIDGYPREVQQGEEFERRIGQPTLLLYVDAGPETMTQRLLKRGETSGRVDDNEETIKKRLETYYKATEPV
IAFYEKRGIVRKVNAEGSVDSVFSQVCTHLDALK*

Gene Symbol:AK1
Accession:NM_001318122
Location:EXON
Amino Acid Prediction: G to D (nonsynonymous)
Amino Acid Position: 70
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGCCSSSDPRREDDLRAREKLKKTKIIFVVGGPGSGKGTQCEKIVQKYGYTHLSTGDLLRSEVSSGSARDKKLSEIMEKG
QLVPLETVLDMLRDAMVAKVNTSKGFLIDGYPREVQQGEEFERRIGQPTLLLYVDAGPETMTQRLLKRGETSGRVDDNEE
TIKKRLETYYKATEPVIAFYEKRGIVRKVNAEGSVDSVFSQVCTHLDALK*

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

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

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

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

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

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

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

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003210105 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene AK1 CLINVAR
  ST6GALNAC4-ST6GALNAC6-AK1 CLINVAR
OMIM 103000 CLINVAR