RGD:9687501 Rat Genome Database

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Variant: RGD:9687501 -  Homo sapiens

RGD ID: 9687501
ClinVar ID: CV171985
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IGSF22-AS1  PTPN5  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 18,759,511
GRCh38 11 18,737,964
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_006906.1:c.916G>A
NC_000011.10:g.18737964C>T
NC_000011.9:g.18759511C>T
NP_008837.1:p.Glu306Lys
 06/02/2014 missense variant not provided MELANOMA, CUTANEOUS MALIGNANT; MELANOMA, MALIGNANT, SOMATIC

Variant Details
Variant Transcripts
Gene Symbol:PTPN5
Accession:NM_001278236
Location:INTRON

Gene Symbol:PTPN5
Accession:NM_032781
Location:INTRON

Gene Symbol:PTPN5
Accession:NM_001278239
Location:INTRON

Gene Symbol:PTPN5
Accession:NM_006906
Location:INTRON

Gene Symbol:PTPN5
Accession:NM_001039970
Location:INTRON

Gene Symbol:PTPN5
Accession:XM_017018435
Location:INTRON

Gene Symbol:PTPN5
Accession:XM_017018439
Location:INTRON

Gene Symbol:PTPN5
Accession:XM_017018437
Location:INTRON

Gene Symbol:PTPN5
Accession:XM_017018434
Location:INTRON

Gene Symbol:PTPN5
Accession:XM_017018438
Location:INTRON

Gene Symbol:PTPN5
Accession:NM_001278238
Location:INTRON

Gene Symbol:PTPN5
Accession:XM_017018436
Location:INTRON

Gene Symbol:IGSF22-AS1
Accession:NR_186353
Location:INTRON;NON-CODING

Variant Samples