RGD:127318701 Rat Genome Database

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Variant: RGD:127318701 -  Homo sapiens

RGD ID: 127318701
RS ID: rs2130328752
ClinVar ID: CV1139154
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYP11B2  LOC106799834  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 143,995,722
GRCh38 8 142,914,306
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.912C>A
NG_046133.1:g.10949G>T
NG_008374.1:g.8538C>A
NC_000008.11:g.142914306G>T
More... 		02/21/2020 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:CYP11B2
Accession:NM_000498
Location:EXON
Amino Acid Prediction: I to I (synonymous)
Amino Acid Position: 304
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALRAKAEVCVAAPWLSLQRARALGTRAARAPRTVLPFEAMPQHPGNRWLRLLQIWREQGYEHLHLEMHQTFQELGPIFR
YNLGGPRMVCVMLPEDVEKLQQVDSLHPCRMILEPWVAYRQHRGHKCGVFLLNGPEWRFNRLRLNPDVLSPKAVQRFLPM
VDAVARDFSQALKKKVLQNARGSLTLDVQPSIFHYTIEASNLALFGERLGLVGHSPSSASLNFLHALEVMFKSTVQLMFM
PRSLSRWISPKVWKEHFEAWDCIFQYGDNCIQKIYQELAFNRPQHYTGIVAELLLKAELSLEAIKANSMELTAGSVDTTA
FPLLMTLFELARNPDVQQILRQESLAAAASISEHPQKATTELPLLRAALKETLRLYPVGLFLERVVSSDLVLQNYHIPAG
TLVQVFLYSLGRNAALFPRPERYNPQRWLDIRGSGRNFHHVPFGFGMRQCLGRRLAEAEMLLLLHHVLKHFLVETLTQED
IKMVYSFILRPGTSPLLTFRAIN*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001483598 CLINVAR
dbSNP (RS) rs2130328752 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CYP11B2 CLINVAR
  LOC106799834 CLINVAR
OMIM 124080 CLINVAR