RGD:126732510 Rat Genome Database

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Variant: RGD:126732510 -  Homo sapiens

RGD ID: 126732510
RS ID: rs764333753
ClinVar ID: CV1000206
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MPL  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 43,803,835
GRCh38 1 43,338,164
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_007525.1:g.5361A>G
NC_000001.11:g.43338164A>G
NC_000001.10:g.43803835A>G
NP_005364.1:p.Thr49Ala
More... 		09/01/2020 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:MPL
Accession:NM_005373
Location:EXON
Amino Acid Prediction: T to A (nonsynonymous)
Amino Acid Position: 49
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPSWALFMVTSCLLLAPQNLAQVSSQDVSLLASDSEPLKCFSRTFEDLACFWDEEEAAPSGTYQLLYAYPREKPRACPLS
SQSMPHFGTRYVCQFPDQEEVRLFFPLHLWVKNVFLNQTRTQRVLFVDSVGLPAPPSIIKAMGGSQPGELQISWEEPAPE
ISDFLRYELRYGPRDPKNSTGPTVIQLIATETCCPALQRPHSASALDQSPCAQPTMPWQDGPKQTSPSREASALTAEGGS
CLISGLQPGNSYWLQLRSEPDGISLGGSWGSWSLPVTVDLPGDAVALGLQCFTLDLKNVTCQWQQQDHASSQGFFYHSRA
RCCPRDRYPIWENCEEEEKTNPGLQTPQFSRCHFKSRNDSIIHILVEVTTAPGTVHSYLGSPFWIHQAVRLPTPNLHWRE
ISSGHLELEWQHPSSWAAQETCYQLRYTGEGHQDWKVLEPPLGARGGTLELRPRSRYRLQLRARLNGPTYQGPWSSWSDP
TRVETATETAWISLVTALHLVLGLSAVLGLLLLRWQFPAHYRRLRHALWPSLPDLHRVLGQYLRDTAALSPPKATVSDTC
EEVEPSLLEILPKSSERTPLPLCSSQAQMDYRRLQPSCLGTMPLSVCPPMAESGSCCTTHIANHSYLPLSYWQQP*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001310848 CLINVAR
dbSNP (RS) rs764333753 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene MPL CLINVAR
OMIM 159530 CLINVAR