RGD:26903909 Rat Genome Database

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Variant: RGD:26903909 -  Homo sapiens

RGD ID: 26903909
RS ID: rs776654469
ClinVar ID: CV831969
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CNPY3-GNMT  GNMT  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 6 42,930,595
GRCh38 6 42,962,857
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001318856.2:c.232G>A
NM_001318857.2:c.247G>A
NM_001318858.2:c.247G>A
NM_001318865.2:c.430G>A
More... 		02/25/2019 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:CNPY3-GNMT
Accession:NM_001318858
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 83
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDSMPEPASRCLLLLPLLLLLLLLLPAPELGPSQAGAEENDWVRLPSKCEVIEEANWMTLDKDVPQSAEGGFDAVICLGN
SFTHLPDCKGCAPPGKNIYYKSDLTKDVTTSVLIVNNKAHMVTLDYTVQVPGAGQDGSPGLSKFRLSYYPHCLASFTELL
QAAFGGKCQHSVLGDFKPYKPGQTYIPCYFIHVLKRTD*

Gene Symbol:GNMT
Accession:NM_001318865
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 144
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVDSVYRTRSLGVAAEGLPDQYADGEAARVWQLYIGDTRSRTAEYKAWLLGLLRQHGCQRVLDVACGTGVDSIMLVEEGF
SVTSVDASDKMLKYALKERWNRRHEPAFDKWVIEEANWMTLDKDVPQSAEGGFDAVICLGNSFTHLPDCKGGLLVIDHRN
YDHILSTGCAPPGKNIYYKSDLTKDVTTSVLIVNNKAHMVTLDYTVQVPGAGQDGSPGLSKFRLSYYPHCLASFTELLQA
AFGGKCQHSVLGDFKPYKPGQTYIPCYFIHVLKRTD*

Gene Symbol:GNMT
Accession:NM_018960
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 144
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVDSVYRTRSLGVAAEGLPDQYADGEAARVWQLYIGDTRSRTAEYKAWLLGLLRQHGCQRVLDVACGTGVDSIMLVEEGF
SVTSVDASDKMLKYALKERWNRRHEPAFDKWVIEEANWMTLDKDVPQSAEGGFDAVICLGNSFTHLPDCKGDQSEHRLAL
KNIASMVRAGGLLVIDHRNYDHILSTGCAPPGKNIYYKSDLTKDVTTSVLIVNNKAHMVTLDYTVQVPGAGQDGSPGLSK
FRLSYYPHCLASFTELLQAAFGGKCQHSVLGDFKPYKPGQTYIPCYFIHVLKRTD*

Gene Symbol:CNPY3-GNMT
Accession:NM_001318857
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 83
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDSMPEPASRCLLLLPLLLLLLLLLPAPELGPSQAGAEENDWVRLPSKCEVIEEANWMTLDKDVPQSAEGGFDAVICLGN
SFTHLPDCKGDQSEHRLALKNIASMVRAGGLLVIDHRNYDHILSTGCAPPGKNIYYKSDLTKDVTTSVLIVNNKAHMVTL
DYTVQVPGAGQDGSPGLSKFRLSYYPHCLASFTELLQAAFGGKCQHSVLGDFKPYKPGQTYIPCYFIHVLKRTD*

Gene Symbol:CNPY3-GNMT
Accession:NM_001318856
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 78
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRRVDSIMLVEEGFSVTSVDASDKMLKYALKERWNRRHEPAFDKWVIEEANWMTLDKDVPQSAEGGFDAVICLGNSFTHL
PDCKGDQSEHRLALKNIASMVRAGGLLVIDHRNYDHILSTGCAPPGKNIYYKSDLTKDVTTSVLIVNNKAHMVTLDYTVQ
VPGAGQDGSPGLSKFRLSYYPHCLASFTELLQAAFGGKCQHSVLGDFKPYKPGQTYIPCYFIHVLKRTD*

Gene Symbol:GNMT
Accession:NR_134899
Location:EXON;NON-CODING

Gene Symbol:CNPY3-GNMT
Accession:NR_134892
Location:EXON;NON-CODING

Gene Symbol:CNPY3-GNMT
Accession:NR_134890
Location:EXON;NON-CODING

Gene Symbol:CNPY3-GNMT
Accession:NR_134891
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001070051 CLINVAR
dbSNP (RS) rs776654469 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene 107080644 CLINVAR
  GNMT CLINVAR
OMIM 606628 CLINVAR