RGD:155995990 Rat Genome Database

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Variant: RGD:155995990 -  Homo sapiens

RGD ID: 155995990
ClinVar ID: CV2277358
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PCYOX1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 70,503,929
GRCh38 2 70,276,797
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_016297.4:c.923A>G
NC_000002.12:g.70276797A>G
NC_000002.11:g.70503929A>G
NM_016297.3:c.923A>G
More... 		06/09/2022 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:PCYOX1
Accession:XM_047444689
Location:EXON
Amino Acid Prediction: Y to C (nonsynonymous)
Amino Acid Position: 231
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMVQGQEYEAGGSVIHPLNLHMKRFVKDLGLSAVQASGGLLGIYNGETLVFEESNWFIINVIKLVWRYGFQSLRMHMWVE
DVLDKFMRIYRYQSHDYAFSSVEKLLHALGGDDFLGMLNRTLLETLQKAGFSEKFLNEMIAPVMRVNYGQSTDINAFVGA
VSLSCSDSGLWAVEGGNKLVCSGLLQASKSNLISGSVMYIEEKTKTKYTGNPTKMYEVVYQIGTETRSDFCDIVLVATPL
NRKMSNITFLNFDPPIEEFHQYYQHIVTTLVKGELNTSIFSSRPIDKFGLNTVLTTDNSDLFINSIGIVPSVREKEDPEP
STDGTYVWKIFSQETLTKAQILKLFLSYDYAVKKPWLAYPHYKPPEKCPSIILHDRLYYLNGIECAASAMEMSAIAAHNA
ALLAYHRWNGHTDMIDQDGLYEKLKTEL*

Gene Symbol:PCYOX1
Accession:NM_016297
Location:EXON
Amino Acid Prediction: Y to C (nonsynonymous)
Amino Acid Position: 308
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRVVAELVSSLLGLWLLLCSCGCPEGAELRAPPDKIAIIGAGIGGTSAAYYLRQKFGKDVKIDLFEREEVGGRLATMMV
QGQEYEAGGSVIHPLNLHMKRFVKDLGLSAVQASGGLLGIYNGETLVFEESNWFIINVIKLVWRYGFQSLRMHMWVEDVL
DKFMRIYRYQSHDYAFSSVEKLLHALGGDDFLGMLNRTLLETLQKAGFSEKFLNEMIAPVMRVNYGQSTDINAFVGAVSL
SCSDSGLWAVEGGNKLVCSGLLQASKSNLISGSVMYIEEKTKTKYTGNPTKMYEVVYQIGTETRSDFCDIVLVATPLNRK
MSNITFLNFDPPIEEFHQYYQHIVTTLVKGELNTSIFSSRPIDKFGLNTVLTTDNSDLFINSIGIVPSVREKEDPEPSTD
GTYVWKIFSQETLTKAQILKLFLSYDYAVKKPWLAYPHYKPPEKCPSIILHDRLYYLNGIECAASAMEMSAIAAHNAALL
AYHRWNGHTDMIDQDGLYEKLKTEL*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004144781 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene PCYOX1 CLINVAR
OMIM 610995 CLINVAR