RGD:40904999 Rat Genome Database

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Variant: RGD:40904999 -  Homo sapiens

RGD ID: 40904999
RS ID: rs544454389
ClinVar ID: CV978417
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYP11B2  LOC106799834  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 143,994,003
GRCh38 8 142,912,587
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000498.3:c.1341G>A
NG_008374.1:g.10257G>A
NG_046133.1:g.9230C>T
NC_000008.11:g.142912587C>T
More... 		11/07/2021 missense variant likely benign|uncertain significance none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CYP11B2
Accession:NM_000498
Location:EXON
Amino Acid Prediction: M to I (nonsynonymous)
Amino Acid Position: 447
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALRAKAEVCVAAPWLSLQRARALGTRAARAPRTVLPFEAMPQHPGNRWLRLLQIWREQGYEHLHLEMHQTFQELGPIFR
YNLGGPRMVCVMLPEDVEKLQQVDSLHPCRMILEPWVAYRQHRGHKCGVFLLNGPEWRFNRLRLNPDVLSPKAVQRFLPM
VDAVARDFSQALKKKVLQNARGSLTLDVQPSIFHYTIEASNLALFGERLGLVGHSPSSASLNFLHALEVMFKSTVQLMFM
PRSLSRWISPKVWKEHFEAWDCIFQYGDNCIQKIYQELAFNRPQHYTGIVAELLLKAELSLEAIKANSMELTAGSVDTTA
FPLLMTLFELARNPDVQQILRQESLAAAASISEHPQKATTELPLLRAALKETLRLYPVGLFLERVVSSDLVLQNYHIPAG
TLVQVFLYSLGRNAALFPRPERYNPQRWLDIRGSGRNFHHVPFGFGIRQCLGRRLAEAEMLLLLHHVLKHFLVETLTQED
IKMVYSFILRPGTSPLLTFRAIN*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001278105 CLINVAR
  RCV002069419 CLINVAR
  RCV003346423 CLINVAR
dbSNP (RS) rs544454389 CLINVAR
MedGen C0950123 CLINVAR
  C3661900 CLINVAR
NCBI Gene CYP11B2 CLINVAR
  LOC106799834 CLINVAR
OMIM 124080 CLINVAR