RGD:12740870 Rat Genome Database

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Variant: RGD:12740870 -  Homo sapiens

RGD ID: 12740870
RS ID: rs1057518013
ClinVar ID: CV360288
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MAP2K1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 15 66,735,697
GRCh38 15 66,443,359
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_725t1:c.516+2T>C
LRG_725:g.61487T>C
NG_008305.1:g.61487T>C
NC_000015.10:g.66443359T>C
More... 		12/24/2015 intron variant|splice donor variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:MAP2K1
Accession:NM_002755
Location:INTRON

Gene Symbol:MAP2K1
Accession:XM_017022411
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:MAP2K1
Accession:NM_001411065
Location:INTRON

Gene Symbol:MAP2K1
Accession:XM_011521783
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000413367 CLINVAR
dbSNP (RS) rs1057518013 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene MAP2K1 CLINVAR
OMIM 176872 CLINVAR