RGD:13809122 Rat Genome Database

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Variant: RGD:13809122 -  Homo sapiens

RGD ID: 13809122
RS ID: rs1303387085
ClinVar ID: CV576916
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYP21A2  LOC106780800  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 6 32,006,288
GRCh38 6 32,038,511
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000500.9:c.89T>A
NG_007941.3:g.5207T>A
NC_000006.12:g.32038511T>A
NC_000006.11:g.32006288T>A
More...
06/20/2018 5 prime utr variant|missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:CYP21A2
Accession:NM_001368143
Location:5UTRS;EXON

Gene Symbol:CYP21A2
Accession:NM_001368144
Location:5UTRS;EXON

Gene Symbol:CYP21A2
Accession:NM_000500
Location:EXON
Amino Acid Prediction: L to H (nonsynonymous)
Amino Acid Position: 30
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLLLGLLLLLPLLAGARLLWNWWKLRSLHHPPLAPGFLHLLQPDLPIYLLGLTQKFGPIYRLHLGLQDVVVLNSKRTIEE
AMVKKWADFAGRPEPLTYKLVSRNYPDLSLGDYSLLWKAHKKLTRSALLLGIRDSMEPVVEQLTQEFCERMRAQPGTPVA
IEEEFSLLTCSIICYLTFGDKIKDDNLMPAYYKCIQEVLKTWSHWSIQIVDVIPFLRFFPNPGLRRLKQAIEKRDHIVEM
QLRQHKESLVAGQWRDMMDYMLQGVAQPSMEEGSGQLLEGHVHMAAVDLLIGGTETTANTLSWAVVFLLHHPEIQQRLQE
ELDHELGPGASSSRVPYKDRARLPLLNATIAEVLRLRPVVPLALPHRTTRPSSISGYDIPEGTVIIPNLQGAHLDETVWE
RPHEFWPDRFLEPGKNSRALAFGCGARVCLGEPLARLELFVVLTRLLQAFTLLPSGDALPSLQPLPHCSVILKMQPFQVR
LQPRGMGAHSPGQSQ*

Gene Symbol:CYP21A2
Accession:NM_001128590
Location:EXON
Amino Acid Prediction: L to H (nonsynonymous)
Amino Acid Position: 30
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLLLGLLLLLPLLAGARLLWNWWKLRSLHHPPLAPGFLHLLQPDLPIYLLGLTQKFGPIYRLHLGLQDKLVSRNYPDLSL
GDYSLLWKAHKKLTRSALLLGIRDSMEPVVEQLTQEFCERMRAQPGTPVAIEEEFSLLTCSIICYLTFGDKIKDDNLMPA
YYKCIQEVLKTWSHWSIQIVDVIPFLRFFPNPGLRRLKQAIEKRDHIVEMQLRQHKESLVAGQWRDMMDYMLQGVAQPSM
EEGSGQLLEGHVHMAAVDLLIGGTETTANTLSWAVVFLLHHPEIQQRLQEELDHELGPGASSSRVPYKDRARLPLLNATI
AEVLRLRPVVPLALPHRTTRPSSISGYDIPEGTVIIPNLQGAHLDETVWERPHEFWPDRFLEPGKNSRALAFGCGARVCL
GEPLARLELFVVLTRLLQAFTLLPSGDALPSLQPLPHCSVILKMQPFQVRLQPRGMGAHSPGQSQ*

Variant Samples
Additional References at PubMed
PMID:26467025  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000711387 CLINVAR
dbSNP (RS) rs1303387085 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene 106780800 CLINVAR
  CYP21A2 CLINVAR
OMIM 613815 CLINVAR