RGD:40904273 Rat Genome Database

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Variant: RGD:40904273 -  Homo sapiens

RGD ID: 40904273
RS ID: rs121434245
ClinVar ID: CV976229
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SRD5A2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 31,805,807
GRCh38 2 31,580,737
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008365.1:g.5235T>C
NC_000002.12:g.31580737A>G
NC_000002.11:g.31805807A>G
NP_000339.2:p.Leu55Pro
More... 		02/02/2022 missense variant pathogenic|likely pathogenic 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency; Familial incomplete male pseudohermaphroditism, type 2; Male pseudohermaphroditism due to 5-alpha-reductase deficiency; none provided; Pseudovaginal perineoscrotal hypospadias
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SRD5A2
Accession:NM_000348
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 55
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQVQCQQSPVLAGSATLVALGALALYVAKPSGYGKHTESLKPAATRLPARAAWFPQELPSFAVPAGILARQPLSLFGPPG
TVLLGLFCLHYFHRTFVYSLLNRGRPYPAILILRGTAFCTGNGVLQGYYLIYCAEYPDGWYTDIRFSLGVFLFILGMGIN
IHSDYILRQLRKPGEISYRIPQGGLFTYVSGANFLGEIIEWIGYALATWSLPALAFAFFSLCFLGLRAFHHHRFYLKMFE
DYPKSRKALIPFIF*

Gene Symbol:SRD5A2
Accession:XM_011533069
Location:INTRON

Gene Symbol:SRD5A2
Accession:XM_011533072
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:19342739   PMID:25741868   PMID:33516834  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001270011 CLINVAR
  RCV002272440 CLINVAR
dbSNP (RS) rs121434245 CLINVAR
MedGen C0268297 CLINVAR
  C3661900 CLINVAR
NCBI Gene SRD5A2 CLINVAR
OMIM 264600 CLINVAR
  607306 CLINVAR
SNOMED CT 57514000 CLINVAR