RGD:15101336 Rat Genome Database

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Variant: RGD:15101336 -  Homo sapiens

RGD ID: 15101336
RS ID: rs150354099
ClinVar ID: CV766566
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYP11B1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 8 143,960,474
GRCh38 8 142,879,058
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000497.4:c.369T>C
NM_001026213.1:c.369T>C
NC_000008.10:g.143960474A>G
NM_000497.3:c.369T>C
More... 		01/08/2019 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:CYP11B1
Accession:NM_001026213
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 123
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALRAKAEVCMAVPWLSLQRAQALGTRAARVPRTVLPFEAMPRRPGNRWLRLLQIWREQGYEDLHLEVHQTFQELGPIFR
YDLGGAGMVCVMLPEDVEKLQQVDSLHPHRMSLEPWVAYRQHRGHKCGVFLLNGPEWRFNRLRLNPEVLSPNAVQRFLPM
VDAVARDFSQALKKKVLQNARGSLTLDVQPSIFHYTIEASNLALFGERLGLVGHSPSSASLNFLHALEVMFKSTVQLMFM
PRSLSRWTSPKVWKEHFEAWDCIFQYGDNCIQKIYQELAFSRPQQYTSIVAELLLNAELSPDAIKANSMELTAGSVDTTV
FPLLMTLFELARNPNVQQALRQESLAAAASISEHPQKATTELPLLRAALKETLRLYPVGLFLERVASSDLVLQNYHIPAG
VLKHLQVETLTQEDIKMVYSFILRPSMFPLLTFRAIN*

Gene Symbol:CYP11B1
Accession:NM_000497
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 123
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALRAKAEVCMAVPWLSLQRAQALGTRAARVPRTVLPFEAMPRRPGNRWLRLLQIWREQGYEDLHLEVHQTFQELGPIFR
YDLGGAGMVCVMLPEDVEKLQQVDSLHPHRMSLEPWVAYRQHRGHKCGVFLLNGPEWRFNRLRLNPEVLSPNAVQRFLPM
VDAVARDFSQALKKKVLQNARGSLTLDVQPSIFHYTIEASNLALFGERLGLVGHSPSSASLNFLHALEVMFKSTVQLMFM
PRSLSRWTSPKVWKEHFEAWDCIFQYGDNCIQKIYQELAFSRPQQYTSIVAELLLNAELSPDAIKANSMELTAGSVDTTV
FPLLMTLFELARNPNVQQALRQESLAAAASISEHPQKATTELPLLRAALKETLRLYPVGLFLERVASSDLVLQNYHIPAG
TLVRVFLYSLGRNPALFPRPERYNPQRWLDIRGSGRNFYHVPFGFGMRQCLGRRLAEAEMLLLLHHVLKHLQVETLTQED
IKMVYSFILRPSMFPLLTFRAIN*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000936782 CLINVAR
dbSNP (RS) rs150354099 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CYP11B1 CLINVAR
OMIM 610613 CLINVAR