RGD:8596085 Rat Genome Database

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Variant: RGD:8596085 -  Homo sapiens

RGD ID: 8596085
RS ID: rs121434247
ClinVar ID: CV18380
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SRD5A2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 31,756,441
GRCh38 2 31,531,371
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NG_008365.1:g.54601G>A
NC_000002.12:g.31531371C>T
NC_000002.11:g.31756441C>T
NP_000339.2:p.Gly183Ser
More... 		11/20/2023 missense|missense variant pathogenic adolescent|neonatal/infancy 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; Pseudovaginal perineoscrotal hypospadias
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SRD5A2
Accession:XM_011533069
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 109
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTSQGMPRTANHCQKLGTLKTFVYSLLNRGRPYPAILILRGTAFCTGNGVLQGYYLIYCAEYPDGWYTDIRFSLGVFLFI
LGMGINIHSDYILRQLRKPGEISYRIPQSGLFTYVSGANFLGEIIEWIGYALATWSLPALAFAFFSLCFLGLRAFHHHRF
YLKMFEDYPKSRKALIPFIF*

Gene Symbol:SRD5A2
Accession:XM_011533072
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 98
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRSWSLTYRTFVYSLLNRGRPYPAILILRGTAFCTGNGVLQGYYLIYCAEYPDGWYTDIRFSLGVFLFILGMGINIHSDY
ILRQLRKPGEISYRIPQSGLFTYVSGANFLGEIIEWIGYALATWSLPALAFAFFSLCFLGLRAFHHHRFYLKMFEDYPKS
RKALIPFIF*

Gene Symbol:SRD5A2
Accession:NM_000348
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 183
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQVQCQQSPVLAGSATLVALGALALYVAKPSGYGKHTESLKPAATRLPARAAWFLQELPSFAVPAGILARQPLSLFGPPG
TVLLGLFCLHYFHRTFVYSLLNRGRPYPAILILRGTAFCTGNGVLQGYYLIYCAEYPDGWYTDIRFSLGVFLFILGMGIN
IHSDYILRQLRKPGEISYRIPQSGLFTYVSGANFLGEIIEWIGYALATWSLPALAFAFFSLCFLGLRAFHHHRFYLKMFE
DYPKSRKALIPFIF*
Variant Samples
Additional References at PubMed
PMID:1522235   PMID:8626825   PMID:9536098   PMID:17576681   PMID:18314109   PMID:18350250   PMID:25741868   PMID:28492532   PMID:28544750  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000003505 CLINVAR
dbSNP (RS) rs121434247 CLINVAR
MedGen C0268297 CLINVAR
NCBI Gene SRD5A2 CLINVAR
OMIM 264600 CLINVAR
  607306 CLINVAR
OMIM Allele 607306.0006 CLINVAR
SNOMED CT 57514000 CLINVAR