RGD:150407778 Rat Genome Database

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Variant: RGD:150407778 -  Homo sapiens

RGD ID: 150407778
RS ID: rs138999760
ClinVar ID: CV1194035
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BMP1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 22,064,455
GRCh38 8 22,206,942
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_029659.1:g.46803G>A
NC_000008.11:g.22206942G>A
NC_000008.10:g.22064455G>A
NR_033403.2:n.2393G>A
More... 		06/21/2021 non-coding transcript variant likely benign none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:BMP1
Accession:NM_006129
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 774
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPGVARLPLLLGLLLLPRPGRPLDLADYTYDLAEEDDSEPLNYKDPCKAAAFLGDIALDEEDLRAFQVQQAVDLRRHTAR
KSSIKAAVPGNTSTPSCQSTNGQPQRGACGRWRGRSRSRRAATSRPERVWPDGVIPFVIGGNFTGSQRAVFRQAMRHWEK
HTCVTFLERTDEDSYIVFTYRPCGCCSYVGRRGGGPQAISIGKNCDKFGIVVHELGHVVGFWHEHTRPDRDRHVSIVREN
IQPGQEYNFLKMEPQEVESLGETYDFDSIMHYARNTFSRGIFLDTIVPKYEVNGVKPPIGQRTRLSKGDIAQARKLYKCP
ACGETLQDSTGNFSSPEYPNGYSAHMHCVWRISVTPGEKIILNFTSLDLYRSRLCWYDYVEVRDGFWRKAPLRGRFCGSK
LPEPIVSTDSRLWVEFRSSSNWVGKGFFAVYEAICGGDVKKDYGHIQSPNYPDDYRPSKVCIWRIQVSEGFHVGLTFQSF
EIERHDSCAYDYLEVRDGHSESSTLIGRYCGYEKPDDIKSTSSRLWLKFVSDGSINKAGFAVNFFKEVDECSRPNRGGCE
QRCLNTLGSYKCSCDPGYELAPDKRRCEAACGGFLTKLNGSITSPGWPKEYPPNKNCIWQLVAPTQYRISLQFDFFETEG
NDVCKYDFVEVRSGLTADSKLHGKFCGSEKPEVITSQYNNMRVEFKSDNTVSKKGFKAHFFSDKDECSKDNGGCQQDCVN
TFGSYECQCRSGFVLHDNKHDCKEAGCDHKVTSTSGTITSPNWPDKYPSKKECTWAISSTPGHRVKLTFMEMDIESQPEC
AYDHLEVFDGRDAKAPVLGRFCGSKKPEPVLATGSRMFLRFYSDNSVQRKGFQASHATECGGQVRADVKTKDLYSHAQFG
DNNYPGGVDCEWVIVAEEGYGVELVFQTFEVEEETDCGYDYMELFDGYDSTAPRLGRYCGSGPPEEVYSAGDSVLVKFHS
DDTITKKGFHLRYTSTKFQDTLHSRK*

Gene Symbol:BMP1
Accession:NR_033403
Location:EXON;NON-CODING

Gene Symbol:BMP1
Accession:NM_001199
Location:INTRON

Gene Symbol:BMP1
Accession:NR_033404
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001572436 CLINVAR
  RCV003931206 CLINVAR
dbSNP (RS) rs138999760 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene BMP1 CLINVAR
OMIM 112264 CLINVAR