RGD:151720168 Rat Genome Database

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Variant: RGD:151720168 -  Homo sapiens

RGD ID: 151720168
RS ID: rs1472040668
ClinVar ID: CV1420775
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYP27B1  LOC127824400  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 58,158,311
GRCh38 12 57,764,528
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_000776.1:p.Ala329Val
NM_000785.4:c.986C>T
NG_007076.1:g.7666C>T
NC_000012.12:g.57764528G>A
More... 		09/01/2021 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:CYP27B1
Accession:NM_000785
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 329
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTQTLKYASRVFHRVRWAPELGASLGYREYHSARRSLADIPGPSTPSFLAELFCKGGLSRLHELQVQGAAHFGPVWLASF
GTVRTVYVAAPALVEELLRQEGPRPERCSFSPWTEHRRCRQRACGLLTAEGEEWQRLRSLLAPLLLRPQAAARYAGTLNN
VVCDLVRRLRRQRGRGTGPPALVRDVAGEFYKFGLEGIAAVLLGSRLGCLEAQVPPDTETFIRAVGSVFVSTLLTMAMPH
WLRHLVPGPWGRLCRDWDQMFAFAQRHVERREAEAAMRNGGQPEKDLESGAHLTHFLFREELPAQSILGNVTELLLAGVD
TVSNTLSWVLYELSRHPEVQTALHSEITAALSPGSSAYPSATVLSQLPLLKAVVKEVLRLYPVVPGNSRVPDKDIHVGDY
IIPKNTLVTLCHYATSRDPAQFPEPNSFRPARWLGEGPTPHPFASLPFGFGKRSCMGRRLAELELQMALAQILTHFEVQP
EPGAAPVRPKTRTVLVPERSINLQFLDR*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002039957 CLINVAR
dbSNP (RS) rs1472040668 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CYP27B1 CLINVAR
OMIM 609506 CLINVAR