rs201120940 Rat Genome Database

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Variant: rs201120940 -  Homo sapiens

RGD ID: 28879235
RS ID: rs201120940
ClinVar ID: CV881380
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SCN1A-AS1  SCN9A  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 167,053,765
GRCh38 2 166,197,255
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000002.11:g.167053765T>C
NC_000002.12:g.166197255T>C
LRG_369:g.183733A>G
NG_012798.1:g.183733A>G
More... 		01/12/2018 3 prime utr variant uncertain significance ASYMBOLIA FOR PAIN; CONGENITAL ANALGESIA, AUTOSOMAL RECESSIVE; Erythermalgia, primary; Indifference to pain, congenital, autosomal recessive; Insensitivity to pain, channelopathy-associated; PAIN, SUBMANDIBULAR, OCULAR, AND RECTAL, WITH FLUSHING; RECTAL PAIN, FAMILIAL; SCN9A-Related Inherited Erythromelalgia
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SCN9A
Accession:NM_001365536
Location:3UTRS;EXON

Gene Symbol:SCN9A
Accession:XM_011511618
Location:3UTRS;EXON

Gene Symbol:SCN9A
Accession:XM_017004669
Location:3UTRS;EXON

Gene Symbol:SCN9A
Accession:XM_011511619
Location:3UTRS;EXON

Gene Symbol:SCN9A
Accession:NM_002977
Location:3UTRS;EXON

Gene Symbol:SCN9A
Accession:XM_011511617
Location:3UTRS;EXON

Gene Symbol:SCN9A
Accession:XM_011511616
Location:3UTRS;EXON

Gene Symbol:SCN1A-AS1
Accession:NR_110260
Location:INTRON;NON-CODING

Gene Symbol:SCN9A
Accession:XR_001738886
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001135466 CLINVAR
  RCV001135467 CLINVAR
  RCV001135468 CLINVAR
dbSNP (RS) rs201120940 CLINVAR
MedGen C0014805 CLINVAR
  C1833661 CLINVAR
  C1855739 CLINVAR
NCBI Gene SCN1A-AS1 CLINVAR
  SCN9A CLINVAR
OMIM 133020 CLINVAR
  167400 CLINVAR
  243000 CLINVAR
  603415 CLINVAR
SNOMED CT 403390002 CLINVAR