RGD:8624201 Rat Genome Database

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Variant: RGD:8624201 -  Homo sapiens

RGD ID: 8624201
RS ID: rs151344496
ClinVar ID: CV79289
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYBB  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 37,655,333
GRCh38 X 37,796,080
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_53t1:c.613T>A
LRG_53:g.21060T>A
NG_009065.1:g.21060T>A
NC_000023.11:g.37796080T>A
More... 		missense|missense variant not provided none provided

Variant Details
Variant Transcripts
Gene Symbol:CYBB
Accession:NM_000397
Location:EXON
Amino Acid Prediction: F to I (nonsynonymous)
Amino Acid Position: 205
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGNWAVNEGLSIFVILVWLGLNVFLFVWYYRVYDIPPKFFYTRKLLGSALALARAPAACLNFNCMLILLPVCRNLLSFLR
GSSACCSTRVRRQLDRNLTFHKMVAWMIALHSAIHTIAHLFNVEWCVNARVNNSDPYSVALSELGDRQNESYLNFARKRI
KNPEGGLYLAVTLLAGITGVVITLCLILIITSSTKTIRRSYFEVIWYTHHLFVIFFIGLAIHGAERIVRGQTAESLAVHN
ITVCEQKISEWGKIKECPIPQFAGNPPMTWKWIVGPMFLYLCERLVRFWRSQQKVVITKVVTHPFKTIELQMKKKGFKME
VGQYIFVKCPKVSKLEWHPFTLTSAPEEDFFSIHIRIVGDWTEGLFNACGCDKQEFQDAWKLPKIAVDGPFGTASEDVFS
YEVVMLVGAGIGVTPFASILKSVWYKYCNNATNLKLKKIYFYWLCRDTHAFEWFADLLQLLESQMQERNNAGFLSYNIYL
TGWDESQANHFAVHHDEEKDVITGLKQKTLYGRPNWDNEFKTIASQHPNTRIGVFLCGPEALAETLSKQSISNSESGPRG
VHFIFNKENF*

Gene Symbol:CYBB
Accession:XM_047441855
Location:EXON
Amino Acid Prediction: F to I (nonsynonymous)
Amino Acid Position: 103
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVAWMIALHSAIHTIAHLFNVEWCVNARVNNSDPYSVALSELGDRQNESYLNFARKRIKNPEGGLYLAVTLLAGITGVVI
TLCLILIITSSTKTIRRSYFEVIWYTHHLFVIFFIGLAIHGAERIVRGQTAESLAVHNITVCEQKISEWGKIKECPIPQF
AGNPPMTWKWIVGPMFLYLCERLVRFWRSQQKVVITKVVTHPFKTIELQMKKKGFKMEVGQYIFVKCPKVSKLEWHPFTL
TSAPEEDFFSIHIRIVGDWTEGLFNACGCDKQEFQDAWKLPKIAVDGPFGTASEDVFSYEVVMLVGAGIGVTPFASILKS
VWYKYCNNATNLKLKKIYFYWLCRDTHAFEWFADLLQLLESQMQERNNAGFLSYNIYLTGWDESQANHFAVHHDEEKDVI
TGLKQKTLYGRPNWDNEFKTIASQHPNTRIGVFLCGPEALAETLSKQSISNSESGPRGVHFIFNKENF*
Variant Samples
Additional References at PubMed
PMID:8916969  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000059264 CLINVAR
dbSNP (RS) rs151344496 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene CYBB CLINVAR
OMIM 300481 CLINVAR