RGD:15105972 Rat Genome Database

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Variant: RGD:15105972 -  Homo sapiens

RGD ID: 15105972
RS ID: rs777780952
ClinVar ID: CV783012
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYP11B2  LOC106799834  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 143,996,645
GRCh38 8 142,915,229
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008374.1:g.7615C>T
NM_000498.3:c.412C>T
NG_046133.1:g.11872G>A
NC_000008.11:g.142915229G>A
More... 		12/20/2018 missense variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:CYP11B2
Accession:NM_000498
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 138
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALRAKAEVCVAAPWLSLQRARALGTRAARAPRTVLPFEAMPQHPGNRWLRLLQIWREQGYEHLHLEMHQTFQELGPIFR
YNLGGPRMVCVMLPEDVEKLQQVDSLHPCRMILEPWVAYRQHRGHKCGVFLLNGPEWCFNRLRLNPDVLSPKAVQRFLPM
VDAVARDFSQALKKKVLQNARGSLTLDVQPSIFHYTIEASNLALFGERLGLVGHSPSSASLNFLHALEVMFKSTVQLMFM
PRSLSRWISPKVWKEHFEAWDCIFQYGDNCIQKIYQELAFNRPQHYTGIVAELLLKAELSLEAIKANSMELTAGSVDTTA
FPLLMTLFELARNPDVQQILRQESLAAAASISEHPQKATTELPLLRAALKETLRLYPVGLFLERVVSSDLVLQNYHIPAG
TLVQVFLYSLGRNAALFPRPERYNPQRWLDIRGSGRNFHHVPFGFGMRQCLGRRLAEAEMLLLLHHVLKHFLVETLTQED
IKMVYSFILRPGTSPLLTFRAIN*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000976544 CLINVAR
dbSNP (RS) rs777780952 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene 106799834 CLINVAR
  CYP11B2 CLINVAR
OMIM 124080 CLINVAR