RGD:152159041 Rat Genome Database

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Variant: RGD:152159041 -  Homo sapiens

RGD ID: 152159041
RS ID: rs73669436
ClinVar ID: CV1521872
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AK1  ST6GALNAC4-ST6GALNAC6-AK1  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 9 130,634,180
GRCh38 9 127,871,901
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1187t1:c.246C>G
NM_000476.3:c.246C>G
NM_001318121.1:c.246C>G
NM_001318122.2:c.294C>G
More... 		06/28/2021 synonymous variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:AK1
Accession:NM_001318122
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 98
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGCCSSSDPRREDDLRAREKLKKTKIIFVVGGPGSGKGTQCEKIVQKYGYTHLSTGDLLRSEVSSGSARGKKLSEIMEKG
QLVPLETVLDMLRDAMVAKVNTSKGFLIDGYPREVQQGEEFERRIGQPTLLLYVDAGPETMTQRLLKRGETSGRVDDNEE
TIKKRLETYYKATEPVIAFYEKRGIVRKVNAEGSVDSVFSQVCTHLDALK*

Gene Symbol:AK1
Accession:NM_000476
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 82
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEKLKKTKIIFVVGGPGSGKGTQCEKIVQKYGYTHLSTGDLLRSEVSSGSARGKKLSEIMEKGQLVPLETVLDMLRDAM
VAKVNTSKGFLIDGYPREVQQGEEFERRIGQPTLLLYVDAGPETMTQRLLKRGETSGRVDDNEETIKKRLETYYKATEPV
IAFYEKRGIVRKVNAEGSVDSVFSQVCTHLDALK*

Gene Symbol:AK1
Accession:NM_001318121
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 82
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEKLKKTKIIFVVGGPGSGKGTQCEKIVQKYGYTHLSTGDLLRSEVSSGSARGKKLSEIMEKGQLVPLETVLDMLRDAM
VAKVNTSKGFLIDGYPREVQQGEEFERRIGQPTLLLYVDAGPETMTQRLLKRGETSGRVDDNEETIKKRLETYYKATEPV
IAFYEKRGIVRKVNAEGSVDSVFSQVCTHLDALK*

Gene Symbol:ST6GALNAC4-ST6GALNAC6-AK1
Accession:NR_174632
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_174627
Location:EXON;NON-CODING

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

Gene Symbol:ST6GALNAC4-ST6GALNAC6-AK1
Accession:NR_174631
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_174624
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002180595 CLINVAR
dbSNP (RS) rs73669436 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene AK1 CLINVAR
  ST6GALNAC4-ST6GALNAC6-AK1 CLINVAR
OMIM 103000 CLINVAR