RGD:15167926 Rat Genome Database

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Variant: RGD:15167926 -  Homo sapiens

RGD ID: 15167926
RS ID: rs528293756
ClinVar ID: CV755310
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HSD11B2  LOC127884296  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 67,469,622
GRCh38 16 67,435,719
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000196.4:c.357C>T
NG_016549.1:g.9587C>T
NC_000016.10:g.67435719C>T
NC_000016.9:g.67469622C>T
More... 		06/23/2018 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:HSD11B2
Accession:NM_000196
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 119
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MERWPWPSGGAWLLVAARALLQLLRSDLRLGRPLLAALALLAALDWLCQRLLPPPAALAVLAAAGWIALSRLARPQRLPV
ATRAVLITGCDSGFGKETAKKLDSMGFTVLATVLELNSPGAIELRTCCSPRLRLLQMDLTKPGDISRVLEFTKAHTTSTG
LWGLVNNAGHNEVVADAELSPVATFRSCMEVNFFGALELTKGLLPLLRSSRGRIVTVGSPAGDMPYPCLGAYGTSKAAVA
LLMDTFSCELLPWGVKVSIIQPGCFKTESVRNVGQWEKRKQLLLANLPQELLQAYGKDYIEHLHGQFLHSLRLAMSDLTP
VVDAITDALLAARPRRRYYPGQGLGLMYFIHYYLPEGLRRRFLQAFFISHCLPRALQPGQPGTTPPQDAAQDPNLSPGPS
PAVAR*

Gene Symbol:HSD11B2
Accession:XM_047434048
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 15
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGFTVLATVLELNSPGAIELRTCCSPRLRLLQMDLTKPGDISRVLEFTKAHTTSTGLWGLVNNAGHNEVVADAELSPVAT
FRSCMEVNFFGALELTKGLLPLLRSSRGRIVTVGSPAGDMPYPCLGAYGTSKAAVALLMDTFSCELLPWGVKVSIIQPGC
FKTESVRNVGQWEKRKQLLLANLPQELLQAYGKDYIEHLHGQFLHSLRLAMSDLTPVVDAITDALLAARPRRRYYPGQGL
GLMYFIHYYLPEGLRRRFLQAFFISHCLPRALQPGQPGTTPPQDAAQDPNLSPGPSPAVAR*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000927187 CLINVAR
dbSNP (RS) rs528293756 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene HSD11B2 CLINVAR
OMIM 614232 CLINVAR