RGD:8624205 Rat Genome Database

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Variant: RGD:8624205 -  Homo sapiens

RGD ID: 8624205
RS ID: rs151344460
ClinVar ID: CV79293
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYBB  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 37,655,384
GRCh38 X 37,796,131
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_53t1:c.664C>T
LRG_53:g.21111C>T
NG_009065.1:g.21111C>T
NC_000023.11:g.37796131C>T
More... 		missense|missense variant not provided none provided

Variant Details
Variant Transcripts
Gene Symbol:CYBB
Accession:XM_047441855
Location:EXON
Amino Acid Prediction: H to Y (nonsynonymous)
Amino Acid Position: 120
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVAWMIALHSAIHTIAHLFNVEWCVNARVNNSDPYSVALSELGDRQNESYLNFARKRIKNPEGGLYLAVTLLAGITGVVI
TLCLILIITSSTKTIRRSYFEVFWYTHHLFVIFFIGLAIYGAERIVRGQTAESLAVHNITVCEQKISEWGKIKECPIPQF
AGNPPMTWKWIVGPMFLYLCERLVRFWRSQQKVVITKVVTHPFKTIELQMKKKGFKMEVGQYIFVKCPKVSKLEWHPFTL
TSAPEEDFFSIHIRIVGDWTEGLFNACGCDKQEFQDAWKLPKIAVDGPFGTASEDVFSYEVVMLVGAGIGVTPFASILKS
VWYKYCNNATNLKLKKIYFYWLCRDTHAFEWFADLLQLLESQMQERNNAGFLSYNIYLTGWDESQANHFAVHHDEEKDVI
TGLKQKTLYGRPNWDNEFKTIASQHPNTRIGVFLCGPEALAETLSKQSISNSESGPRGVHFIFNKENF*

Gene Symbol:CYBB
Accession:NM_000397
Location:EXON
Amino Acid Prediction: H to Y (nonsynonymous)
Amino Acid Position: 222
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGNWAVNEGLSIFVILVWLGLNVFLFVWYYRVYDIPPKFFYTRKLLGSALALARAPAACLNFNCMLILLPVCRNLLSFLR
GSSACCSTRVRRQLDRNLTFHKMVAWMIALHSAIHTIAHLFNVEWCVNARVNNSDPYSVALSELGDRQNESYLNFARKRI
KNPEGGLYLAVTLLAGITGVVITLCLILIITSSTKTIRRSYFEVFWYTHHLFVIFFIGLAIYGAERIVRGQTAESLAVHN
ITVCEQKISEWGKIKECPIPQFAGNPPMTWKWIVGPMFLYLCERLVRFWRSQQKVVITKVVTHPFKTIELQMKKKGFKME
VGQYIFVKCPKVSKLEWHPFTLTSAPEEDFFSIHIRIVGDWTEGLFNACGCDKQEFQDAWKLPKIAVDGPFGTASEDVFS
YEVVMLVGAGIGVTPFASILKSVWYKYCNNATNLKLKKIYFYWLCRDTHAFEWFADLLQLLESQMQERNNAGFLSYNIYL
TGWDESQANHFAVHHDEEKDVITGLKQKTLYGRPNWDNEFKTIASQHPNTRIGVFLCGPEALAETLSKQSISNSESGPRG
VHFIFNKENF*
Variant Samples
Additional References at PubMed
PMID:9585602  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000059269 CLINVAR
dbSNP (RS) rs151344460 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene CYBB CLINVAR
OMIM 300481 CLINVAR