RGD:401932767 Rat Genome Database

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Variant: RGD:401932767 -  Homo sapiens

RGD ID: 401932767
ClinVar ID: CV2809247
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SCNM1  SCNM1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 151,140,742
GRCh38 1 151,168,266
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001204848.2:c.416C>T
NM_001204856.2:c.416C>T
NM_024041.4:c.521C>T
NC_000001.11:g.151168266C>T
More... 		01/01/2023 missense variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:SCNM1
Accession:NM_001204848
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 139
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRDGRFACAICPHRPVLDTLAMLTAHRAGKKHLSSLQLFYGKKQPGKERKQNPKHQNELRREETKAEAPLLTQTRLITQ
SALHRAPHYNSCCRRKYRPEAPGPSVSLSPMPPSEVKLQSGKISREPEPAAGPQAEESVTVSAPAPMSPTRRRALDHYLT
LRSSGWIPDGRGRWVKDENVEFDSDEEEPPDLPLD*

Gene Symbol:SCNM1
Accession:NM_001204856
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 139
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRDGRFACAICPHRPVLDTLAMLTAHRAGKKHLSSLQLFYGKKQPGKERKQNPKHQNELRREETKAEAPLLTQTRLITQ
SALHRAPHYNSCCRRKYRPEAPGPSVSLSPMPPSEVKLQSGKISREPEPAAGPQAEESVTVSAPAPMSPTRRRALDHYLT
LRSSGWIPDGRGRWVKDENVEFDSDEEEPPDLPLD*

Gene Symbol:SCNM1
Accession:NM_024041
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 174
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSFKREGDDWSQLNVLKKRRVGDLLASYIPEDEALMLRDGRFACAICPHRPVLDTLAMLTAHRAGKKHLSSLQLFYGKKQ
PGKERKQNPKHQNELRREETKAEAPLLTQTRLITQSALHRAPHYNSCCRRKYRPEAPGPSVSLSPMPPSEVKLQSGKISR
EPEPAAGPQAEESVTVSAPAPMSPTRRRALDHYLTLRSSGWIPDGRGRWVKDENVEFDSDEEEPPDLPLD*

Gene Symbol:SCNM1
Accession:NR_144937
Location:EXON;NON-CODING

Gene Symbol:SCNM1
Accession:NR_037937
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003408863 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SCNM1 CLINVAR
  SCNM1 CLINVAR
OMIM 608095 CLINVAR