RGD:155917417 Rat Genome Database

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Variant: RGD:155917417 -  Homo sapiens

RGD ID: 155917417
ClinVar ID: CV2236549
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ASB6  NTMT1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 132,397,646
GRCh38 9 129,635,367
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001202403.2:c.*2423C>T
NM_017873.4:c.*2423C>T
NM_177999.3:c.*2986C>T
NM_001286800.2:c.*52G>A
More... 		10/18/2021 3 prime utr variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ASB6
Accession:NM_177999
Location:3UTRS;EXON

Gene Symbol:ASB6
Accession:NM_017873
Location:3UTRS;EXON

Gene Symbol:ASB6
Accession:NM_001202403
Location:3UTRS;EXON

Gene Symbol:NTMT1
Accession:NM_001286801
Location:3UTRS;EXON

Gene Symbol:NTMT1
Accession:NM_001286800
Location:3UTRS;EXON

Gene Symbol:NTMT1
Accession:XM_047423259
Location:3UTRS;EXON

Gene Symbol:NTMT1
Accession:XM_047423260
Location:3UTRS;EXON

Gene Symbol:NTMT1
Accession:NM_014064
Location:EXON
Amino Acid Prediction: R to K (nonsynonymous)
Amino Acid Position: 192
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTSEVIEDEKQFYSKAKTYWKQIPPTVDGMLGGYGHISSIDINSSRKFLQRFLREGPNKTGTSCALDCGAGIGRITKRLL
LPLFREVDMVDITEDFLVQAKTYLGEEGKRVRNYFCCGLQDFTPEPDSYDVIWIQWVIGHLTDQHLAEFLRRCKGSLRPN
GIIVIKDNMAQEGVILDDVDSSVCRDLDVVRKIICSAGLSLLAEERQENLPDEIYHVYSFALR*

Gene Symbol:NTMT1
Accession:NM_001286796
Location:EXON
Amino Acid Prediction: R to K (nonsynonymous)
Amino Acid Position: 192
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTSEVIEDEKQFYSKAKTYWKQIPPTVDGMLGGYGHISSIDINSSRKFLQRFLREGPNKTGTSCALDCGAGIGRITKRLL
LPLFREVDMVDITEDFLVQAKTYLGEEGKRVRNYFCCGLQDFTPEPDSYDVIWIQWVIGHLTDQHLAEFLRRCKGSLRPN
GIIVIKDNMAQEGVILDDVDSSVCRDLDVVRKIICSAGLSLLAEERQENLPDEIYHVYSFALR*

Gene Symbol:NTMT1
Accession:NM_001286797
Location:EXON
Amino Acid Prediction: R to K (nonsynonymous)
Amino Acid Position: 192
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTSEVIEDEKQFYSKAKTYWKQIPPTVDGMLGGYGHISSIDINSSRKFLQRFLREGPNKTGTSCALDCGAGIGRITKRLL
LPLFREVDMVDITEDFLVQAKTYLGEEGKRVRNYFCCGLQDFTPEPDSYDVIWIQWVIGHLTDQHLAEFLRRCKGSLRPN
GIIVIKDNMAQEGVILDDVDSSVCRDLDVVRKIICSAGLSLLAEERQENLPDEIYHVYSFALR*

Gene Symbol:NTMT1
Accession:NM_001286798
Location:EXON
Amino Acid Prediction: R to K (nonsynonymous)
Amino Acid Position: 192
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTSEVIEDEKQFYSKAKTYWKQIPPTVDGMLGGYGHISSIDINSSRKFLQRFLREGPNKTGTSCALDCGAGIGRITKRLL
LPLFREVDMVDITEDFLVQAKTYLGEEGKRVRNYFCCGLQDFTPEPDSYDVIWIQWVIGHLTDQHLAEFLRRCKGSLRPN
GIIVIKDNMAQEGVILDDVDSSVCRDLDVVRKIICSAGLSLLAEERQENLPDEIYHVYSFALR*

Gene Symbol:NTMT1
Accession:NM_001286802
Location:EXON
Amino Acid Prediction: R to K (nonsynonymous)
Amino Acid Position: 104
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVDITEDFLVQAKTYLGEEGKRVRNYFCCGLQDFTPEPDSYDVIWIQWVIGHLTDQHLAEFLRRCKGSLRPNGIIVIKDN
MAQEGVILDDVDSSVCRDLDVVRKIICSAGLSLLAEERQENLPDEIYHVYSFALR*

Gene Symbol:NTMT1
Accession:NM_001286803
Location:EXON
Amino Acid Prediction: R to K (nonsynonymous)
Amino Acid Position: 104
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVDITEDFLVQAKTYLGEEGKRVRNYFCCGLQDFTPEPDSYDVIWIQWVIGHLTDQHLAEFLRRCKGSLRPNGIIVIKDN
MAQEGVILDDVDSSVCRDLDVVRKIICSAGLSLLAEERQENLPDEIYHVYSFALR*

Gene Symbol:NTMT1
Accession:NM_001286799
Location:EXON
Amino Acid Prediction: R to K (nonsynonymous)
Amino Acid Position: 192
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTSEVIEDEKQFYSKAKTYWKQIPPTVDGMLGGYGHISSIDINSSRKFLQRFLREGPNKTGTSCALDCGAGIGRITKRLL
LPLFREVDMVDITEDFLVQAKTYLGEEGKRVRNYFCCGLQDFTPEPDSYDVIWIQWVIGHLTDQHLAEFLRRCKGSLRPN
GIIVIKDNMAQEGVILDDVDSSVCRDLDVVRKIICSAGLSLLAEERQENLPDEIYHVYSFALR*

Gene Symbol:NTMT1
Accession:XM_047423258
Location:EXON
Amino Acid Prediction: R to K (nonsynonymous)
Amino Acid Position: 192
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTSEVIEDEKQFYSKAKTYWKQIPPTVDGMLGGYGHISSIDINSSRKFLQRFLREGPNKTGTSCALDCGAGIGRITKRLL
LPLFREVDMVDITEDFLVQAKTYLGEEGKRVRNYFCCGLQDFTPEPDSYDVIWIQWVIGHLTDQHLAEFLRRCKGSLRPN
GIIVIKDNMAQEGVILDDVDSSVCRDLDVVRKIICSAGLSLLAEERQENLPDEIYHVYSFALR*

Gene Symbol:NTMT1
Accession:XM_047423257
Location:EXON
Amino Acid Prediction: R to K (nonsynonymous)
Amino Acid Position: 192
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTSEVIEDEKQFYSKAKTYWKQIPPTVDGMLGGYGHISSIDINSSRKFLQRFLREGPNKTGTSCALDCGAGIGRITKRLL
LPLFREVDMVDITEDFLVQAKTYLGEEGKRVRNYFCCGLQDFTPEPDSYDVIWIQWVIGHLTDQHLAEFLRRCKGSLRPN
GIIVIKDNMAQEGVILDDVDSSVCRDLDVVRKIICSAGLSLLAEERQENLPDEIYHVYSFALR*

Gene Symbol:NTMT1
Accession:XM_047423261
Location:EXON
Amino Acid Prediction: R to K (nonsynonymous)
Amino Acid Position: 104
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVDITEDFLVQAKTYLGEEGKRVRNYFCCGLQDFTPEPDSYDVIWIQWVIGHLTDQHLAEFLRRCKGSLRPNGIIVIKDN
MAQEGVILDDVDSSVCRDLDVVRKIICSAGLSLLAEERQENLPDEIYHVYSFALR*

Gene Symbol:NTMT1
Accession:NR_104596
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002772499 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene ASB6 CLINVAR
  NTMT1 CLINVAR
OMIM 613560 CLINVAR
  615051 CLINVAR