RGD:38492403 Rat Genome Database

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Variant: RGD:38492403 -  Homo sapiens

RGD ID: 38492403
RS ID: rs1216032234
ClinVar ID: CV953089
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYP1B1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 38,297,897
GRCh38 2 38,070,754
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000104.4:c.1600C>A
NG_008386.2:g.10348C>A
NC_000002.12:g.38070754G>T
NC_000002.11:g.38297897G>T
More... 		11/20/2019 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View
buphthalmos  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:CYP1B1
Accession:NM_000104
Location:EXON
Amino Acid Prediction: Q to K (nonsynonymous)
Amino Acid Position: 534
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGTSLSPNDPWPLNPLSIQQTTLLLLLSVLATVHVGQRLLRQRRRQLRSAPPGPFAWPLIGNAAAVGQAAHLSFARLARR
YGDVFQIRLGSCPIVVLNGERAIHQALVQQGSAFADRPAFASFRVVSGGRSMAFGHYSEHWKVQRRAAHSMMRNFFTRQP
RSRQVLEGHVLSEARELVALLVRGSADGAFLDPRPLTVVAVANVMSAVCFGCRYSHDDPEFRELLSHNEEFGRTVGAGSL
VDVMPWLQYFPNPVRTVFREFEQLNRNFSNFILDKFLRHCESLRPGAAPRDMMDAFILSAEKKAAGDSHGGGARLDLENV
PATITDIFGASQDTLSTALQWLLLLFTRYPDVQTRVQAELDQVVGRDRLPCMGDQPNLPYVLAFLYEAMRFSSFVPVTIP
HATTANTSVLGYHIPKDTVVFVNQWSVNHDPLKWPNPENFDPARFLDKDGLINKDLTSRVMIFSVGKRRCIGEELSKMQL
FLFISILAHQCDFRANPNEPAKMNFSYGLTIKPKSFKVNVTLRESMELLDSAVKNLQAKETCQ*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001240062 CLINVAR
dbSNP (RS) rs1216032234 CLINVAR
MedGen C0020302 CLINVAR
NCBI Gene CYP1B1 CLINVAR
OMIM 601771 CLINVAR
SNOMED CT 204113001 CLINVAR