RGD:15126737 Rat Genome Database

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Variant: RGD:15126737 -  Homo sapiens

RGD ID: 15126737
RS ID: rs368500350
ClinVar ID: CV745402
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MPP1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 154,020,407
GRCh38 X 154,792,132
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001166462.2:c.156+10C>T
NM_001166460.2:c.195+61C>T
NM_001166461.2:c.246+10C>T
NM_002436.4:c.246+10C>T
More... 		12/05/2017 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:MPP1
Accession:XM_024452385
Location:INTRON

Gene Symbol:MPP1
Accession:NM_001166461
Location:INTRON

Gene Symbol:MPP1
Accession:XM_011531169
Location:INTRON

Gene Symbol:MPP1
Accession:NM_002436
Location:INTRON

Gene Symbol:MPP1
Accession:XM_047442123
Location:INTRON

Gene Symbol:MPP1
Accession:NM_001166462
Location:INTRON

Gene Symbol:MPP1
Accession:XM_011531167
Location:INTRON

Gene Symbol:MPP1
Accession:XM_047442124
Location:INTRON

Gene Symbol:MPP1
Accession:NM_001166460
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000896982 CLINVAR
dbSNP (RS) rs368500350 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene MPP1 CLINVAR
OMIM 305360 CLINVAR