RGD:15176337 Rat Genome Database

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Variant: RGD:15176337 -  Homo sapiens

RGD ID: 15176337
RS ID: rs61741075
ClinVar ID: CV736892
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AK1  ST6GALNAC4-ST6GALNAC6-AK1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 130,635,074
GRCh38 9 127,872,795
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000009.11:g.130635074G>A
NM_001318121.1:c.102C>T
NM_001318122.2:c.150C>T
NC_000009.12:g.127872795G>A
More... 		05/28/2021 synonymous variant benign|likely benign none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:AK1
Accession:NM_000476
Location:EXON
Amino Acid Prediction: Y to Y (synonymous)
Amino Acid Position: 34
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEKLKKTKIIFVVGGPGSGKGTQCEKIVQKYGYTHLSTGDLLRSEVSSGSARGKKLSEIMEKGQLVPLETVLDMLRDAM
VAKVNTSKGFLIDGYPREVQQGEEFERRIGQPTLLLYVDAGPETMTQRLLKRGETSGRVDDNEETIKKRLETYYKATEPV
IAFYEKRGIVRKVNAEGSVDSVFSQVCTHLDALK*

Gene Symbol:AK1
Accession:NM_001318121
Location:EXON
Amino Acid Prediction: Y to Y (synonymous)
Amino Acid Position: 34
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEKLKKTKIIFVVGGPGSGKGTQCEKIVQKYGYTHLSTGDLLRSEVSSGSARGKKLSEIMEKGQLVPLETVLDMLRDAM
VAKVNTSKGFLIDGYPREVQQGEEFERRIGQPTLLLYVDAGPETMTQRLLKRGETSGRVDDNEETIKKRLETYYKATEPV
IAFYEKRGIVRKVNAEGSVDSVFSQVCTHLDALK*

Gene Symbol:AK1
Accession:NM_001318122
Location:EXON
Amino Acid Prediction: Y to Y (synonymous)
Amino Acid Position: 50
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGCCSSSDPRREDDLRAREKLKKTKIIFVVGGPGSGKGTQCEKIVQKYGYTHLSTGDLLRSEVSSGSARGKKLSEIMEKG
QLVPLETVLDMLRDAMVAKVNTSKGFLIDGYPREVQQGEEFERRIGQPTLLLYVDAGPETMTQRLLKRGETSGRVDDNEE
TIKKRLETYYKATEPVIAFYEKRGIVRKVNAEGSVDSVFSQVCTHLDALK*

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

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

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

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

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

Gene Symbol:ST6GALNAC4-ST6GALNAC6-AK1
Accession:NR_174625
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_174624
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000906408 CLINVAR
  RCV001804077 CLINVAR
dbSNP (RS) rs61741075 CLINVAR
MedGen C2675459 CLINVAR
  C3661900 CLINVAR
NCBI Gene AK1 CLINVAR
  ST6GALNAC4-ST6GALNAC6-AK1 CLINVAR
OMIM 103000 CLINVAR
  612631 CLINVAR