RGD:151884111 Rat Genome Database

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Variant: RGD:151884111 -  Homo sapiens

RGD ID: 151884111
RS ID: rs944015648
ClinVar ID: CV1404991
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYP51A1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 91,753,109
GRCh38 7 92,123,795
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001146152.2:c.514C>T
NM_000786.4:c.829C>T
NG_007968.1:g.15732C>T
NC_000007.14:g.92123795G>A
More... 		10/26/2023 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:CYP51A1
Accession:NM_001146152
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 172
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVGKTFTYLLGSDAAALLFNSKNEDLNAEDVYSRLTTPVFGKGVAYDVPNPVFLEQKKMLKSGLNIAHFKQHVSIIEKET
KEYFESWGESGEKNVFEALSELIILTASHCLHGKEIRSQLNEKVAQLYADLDGGFSHAAWLLPGWLPLPSFRRRDRAHRE
IKDIFYKAIQKCRQSQEKIDDILQTLLDATYKDGRPLTDDEVAGMLIGLLLAGQHTSSTTSAWMGFFLARDKTLQKKCYL
EQKTVCGENLPPLTYDQLKDLNLLDRCIKETLRLRPPIMIMMRMARTPQTVAGYTIPPGHQVCVSPTVNQRLKDSWVERL
DFNPDRYLQDNPASGEKFAYVPFGAGRHRCIGENFAYVQIKTIWSTMLRLYEFDLIDGYFPTVNYTTMIHTPENPVIRYK
RRSK*

Gene Symbol:CYP51A1
Accession:NM_000786
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 277
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAAAGMLLLGLLQAGGSVLGQAMEKVTGGNLLSMLLIACAFTLSLVYLIRLAAGHLVQLPAGVKSPPYIFSPIPFLGHA
IAFGKSPIEFLENAYEKYGPVFSFTMVGKTFTYLLGSDAAALLFNSKNEDLNAEDVYSRLTTPVFGKGVAYDVPNPVFLE
QKKMLKSGLNIAHFKQHVSIIEKETKEYFESWGESGEKNVFEALSELIILTASHCLHGKEIRSQLNEKVAQLYADLDGGF
SHAAWLLPGWLPLPSFRRRDRAHREIKDIFYKAIQKCRQSQEKIDDILQTLLDATYKDGRPLTDDEVAGMLIGLLLAGQH
TSSTTSAWMGFFLARDKTLQKKCYLEQKTVCGENLPPLTYDQLKDLNLLDRCIKETLRLRPPIMIMMRMARTPQTVAGYT
IPPGHQVCVSPTVNQRLKDSWVERLDFNPDRYLQDNPASGEKFAYVPFGAGRHRCIGENFAYVQIKTIWSTMLRLYEFDL
IDGYFPTVNYTTMIHTPENPVIRYKRRSK*
Variant Samples
Additional References at PubMed
PMID:22935719   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001962265 CLINVAR
dbSNP (RS) rs944015648 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CYP51A1 CLINVAR
OMIM 601637 CLINVAR