RGD:15110951 Rat Genome Database

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Variant: RGD:15110951 -  Homo sapiens

RGD ID: 15110951
RS ID: rs1595108790
ClinVar ID: CV784443
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDK4  TSPAN31  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 12 58,143,061
GRCh38 12 57,749,278
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001330168.2:c.*1988A>G
NM_001330169.2:c.*1988A>G
NC_000012.12:g.57749278A>G
NP_000066.1:p.Asp241=
More... 		11/02/2018 3 prime utr variant likely benign Hereditary cutaneous melanoma; Hereditary melanoma
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TSPAN31
Accession:NM_001330169
Location:3UTRS;EXON

Gene Symbol:TSPAN31
Accession:NM_005981
Location:3UTRS;EXON

Gene Symbol:TSPAN31
Accession:NM_001330168
Location:3UTRS;EXON

Gene Symbol:CDK4
Accession:NM_000075
Location:EXON
Amino Acid Prediction: D to E (nonsynonymous)
Amino Acid Position: 241
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATSRYEPVAEIGVGAYGTVYKARDPHSGHFVALKSVRVPNGGGGGGGLPISTVREVALLRRLEAFEHPNVVRLMDVCAT
SRTDREIKVTLVFEHVDQDLRTYLDKAPPPGLPAETIKDLMRQFLRGLDFLHANCIVHRDLKPENILVTSGGTVKLADFG
LARIYSYQMALTPVVVTLWYRAPEVLLQSTYATPVDMWSVGCIFAEMFRRKPLFCGNSEADQLGKIFDLIGLPPEDDWPR
EVSLPRGAFPPRGPRPVQSVVPEMEESGAQLLLEMLTFNPHKRISAFRALQHSYLHKDEGNPE*

Gene Symbol:TSPAN31
Accession:XM_024449123
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001424842 CLINVAR
dbSNP (RS) rs1595108790 CLINVAR
MedGen C1512419 CLINVAR
NCBI Gene CDK4 CLINVAR
  TSPAN31 CLINVAR
OMIM 123829 CLINVAR
  181035 CLINVAR