RGD:28868131 Rat Genome Database

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Variant: RGD:28868131 -  Homo sapiens

RGD ID: 28868131
RS ID: rs1300048405
ClinVar ID: CV870245
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYP27B1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 58,159,858
GRCh38 12 57,766,075
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000785.4:c.318G>A
NC_000012.12:g.57766075C>T
NC_000012.11:g.58159858C>T
NM_000785.3:c.318G>A
More... 		11/21/2023 synonymous variant likely benign|uncertain significance none provided; VITAMIN D DEPENDENCY, TYPE 1
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CYP27B1
Accession:NM_000785
Location:EXON
Amino Acid Prediction: E to E (synonymous)
Amino Acid Position: 106
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTQTLKYASRVFHRVRWAPELGASLGYREYHSARRSLADIPGPSTPSFLAELFCKGGLSRLHELQVQGAAHFGPVWLASF
GTVRTVYVAAPALVEELLRQEGPRPERCSFSPWTEHRRCRQRACGLLTAEGEEWQRLRSLLAPLLLRPQAAARYAGTLNN
VVCDLVRRLRRQRGRGTGPPALVRDVAGEFYKFGLEGIAAVLLGSRLGCLEAQVPPDTETFIRAVGSVFVSTLLTMAMPH
WLRHLVPGPWGRLCRDWDQMFAFAQRHVERREAEAAMRNGGQPEKDLESGAHLTHFLFREELPAQSILGNVTELLLAGVD
TVSNTLSWALYELSRHPEVQTALHSEITAALSPGSSAYPSATVLSQLPLLKAVVKEVLRLYPVVPGNSRVPDKDIHVGDY
IIPKNTLVTLCHYATSRDPAQFPEPNSFRPARWLGEGPTPHPFASLPFGFGKRSCMGRRLAELELQMALAQILTHFEVQP
EPGAAPVRPKTRTVLVPERSINLQFLDR*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001112265 CLINVAR
  RCV003727862 CLINVAR
dbSNP (RS) rs1300048405 CLINVAR
MedGen C0268689 CLINVAR
  C3661900 CLINVAR
NCBI Gene CYP27B1 CLINVAR
OMIM 264700 CLINVAR
  609506 CLINVAR
SNOMED CT 67049004 CLINVAR