RGD:8557926 Rat Genome Database

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Variant: RGD:8557926 -  Homo sapiens

RGD ID: 8557926
RS ID: rs121907889
ClinVar ID: CV19209
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CNPY3-GNMT  GNMT  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 6 42,930,887
GRCh38 6 42,963,149
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008396.1:g.7388C>A
NC_000006.12:g.42963149C>A
NC_000006.11:g.42930887C>A
NP_061833.1:p.His177Asn
More... 		09/23/2019 intron variant|missense|missense variant pathogenic|likely benign|uncertain significance none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CNPY3-GNMT
Accession:NM_001318857
Location:EXON
Amino Acid Prediction: H to N (nonsynonymous)
Amino Acid Position: 116
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDSMPEPASRCLLLLPLLLLLLLLLPAPELGPSQAGAEENDWVRLPSKCEVIEEANWMTLDKDVPQSAEGGFDAVICLGN
SFAHLPDCKGDQSEHRLALKNIASMVRAGGLLVIDNRNYDHILSTGCAPPGKNIYYKSDLTKDVTTSVLIVNNKAHMVTL
DYTVQVPGAGQDGSPGLSKFRLSYYPHCLASFTELLQAAFGGKCQHSVLGDFKPYKPGQTYIPCYFIHVLKRTD*

Gene Symbol:CNPY3-GNMT
Accession:NM_001318856
Location:EXON
Amino Acid Prediction: H to N (nonsynonymous)
Amino Acid Position: 111
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRRVDSIMLVEEGFSVTSVDASDKMLKYALKERWNRRHEPAFDKWVIEEANWMTLDKDVPQSAEGGFDAVICLGNSFAHL
PDCKGDQSEHRLALKNIASMVRAGGLLVIDNRNYDHILSTGCAPPGKNIYYKSDLTKDVTTSVLIVNNKAHMVTLDYTVQ
VPGAGQDGSPGLSKFRLSYYPHCLASFTELLQAAFGGKCQHSVLGDFKPYKPGQTYIPCYFIHVLKRTD*

Gene Symbol:GNMT
Accession:NM_001318865
Location:EXON
Amino Acid Prediction: H to N (nonsynonymous)
Amino Acid Position: 158
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVDSVYRTRSLGVAAEGLPDQYADGEAARVWQLYIGDTRSRTAEYKAWLLGLLRQHGCQRVLDVACGTGVDSIMLVEEGF
SVTSVDASDKMLKYALKERWNRRHEPAFDKWVIEEANWMTLDKDVPQSAEGGFDAVICLGNSFAHLPDCKGGLLVIDNRN
YDHILSTGCAPPGKNIYYKSDLTKDVTTSVLIVNNKAHMVTLDYTVQVPGAGQDGSPGLSKFRLSYYPHCLASFTELLQA
AFGGKCQHSVLGDFKPYKPGQTYIPCYFIHVLKRTD*

Gene Symbol:GNMT
Accession:NM_018960
Location:EXON
Amino Acid Prediction: H to N (nonsynonymous)
Amino Acid Position: 177
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVDSVYRTRSLGVAAEGLPDQYADGEAARVWQLYIGDTRSRTAEYKAWLLGLLRQHGCQRVLDVACGTGVDSIMLVEEGF
SVTSVDASDKMLKYALKERWNRRHEPAFDKWVIEEANWMTLDKDVPQSAEGGFDAVICLGNSFAHLPDCKGDQSEHRLAL
KNIASMVRAGGLLVIDNRNYDHILSTGCAPPGKNIYYKSDLTKDVTTSVLIVNNKAHMVTLDYTVQVPGAGQDGSPGLSK
FRLSYYPHCLASFTELLQAAFGGKCQHSVLGDFKPYKPGQTYIPCYFIHVLKRTD*

Gene Symbol:CNPY3-GNMT
Accession:NM_001318858
Location:INTRON

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

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

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

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

Variant Samples
Additional References at PubMed
PMID:11810299   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000004387 CLINVAR
  RCV002227988 CLINVAR
dbSNP (RS) rs121907889 CLINVAR
MedGen C1847720 CLINVAR
  C3661900 CLINVAR
NCBI Gene 107080644 CLINVAR
  GNMT CLINVAR
OMIM 606628 CLINVAR
  606664 CLINVAR
OMIM Allele 606628.0002 CLINVAR