RGD:8657595 Rat Genome Database

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Variant: RGD:8657595 -  Homo sapiens

RGD ID: 8657595
RS ID: rs587780378
ClinVar ID: CV134878
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KLF11  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 10,187,931
GRCh38 2 10,047,804
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_017199.1:g.9250G>T
NC_000002.12:g.10047804G>T
NC_000002.11:g.10187931G>T
NP_003588.1:p.Gly156Val
More...
06/27/2013 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:KLF11
Accession:NM_001177716
Location:EXON
Amino Acid Prediction: G to V (nonsynonymous)
Amino Acid Position: 139
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDICESILERKRHDSERSTCSILEQTDMEAVEALVCMSSWGQRSQKGDLLRIRPLTPVSDSGDVTTTVHMDAATPELPKD
FHSLSTLCITPPQSPDLVEPSTRTPVSPQVTDSKACTATDVLQSSAVVARALSGGAERVLLGLEPVPSSPCRAKGTSVIR
HTGESPAACFPTIQTPDCRLSDSREGEEQLLGHFETLQDTHLTDSLLSTNLVSCQPCLHKSGGLLLTDKGQQAGWPGAVQ
TCSPKNYENDLPRKTTPLISVSVPAPPVLCQMIPVTGQSSMLPAFLKPPPQLSVGTVRPILAQAAPAPQPVFVGPAVPQG
AVMLVLPQGALPPPAPCAANVMAAGNTKLLPLAPAPVFITSSQNCVPQVDFSRRRNYVCSFPGCRKTYFKSSHLKAHLRT
HTGEKPFNCSWDGCDKKFARSDELSRHRRTHTGEKKFVCPVCDRRFMRSDHLTKHARRHMTTKKIPGWQAEVGKLNRIAS
AESPGSPLVSMPASA*

Gene Symbol:KLF11
Accession:XM_047446025
Location:EXON
Amino Acid Prediction: G to V (nonsynonymous)
Amino Acid Position: 139
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDICESILERKRHDSERSTCSILEQTDMEAVEALVCMSSWGQRSQKGDLLRIRPLTPVSDSGDVTTTVHMDAATPELPKD
FHSLSTLCITPPQSPDLVEPSTRTPVSPQVTDSKACTATDVLQSSAVVARALSGGAERVLLGLEPVPSSPCRAKGTSVIR
HTGESPAACFPTIQTPDCRLSDSREGEEQLLGHFETLQDTHLTDSLLSTNLVSCQPCLHKSGGLLLTDKGQQAGWPGAVQ
TCSPKNYENDLPRKTTPLISVSVPAPPVLCQMIPVTGQSSMLPAFLKPPPQLSVGTVRPILAQAAPAPQPVFVGPAVPQG
AVMLVLPQGALPPPAPCAANVMAAGNTKLLPLAPAPVFITSSQNCVPQVDFSRRRNYVCSFPGCRKTYFKSSHLKAHLRT
HTGEKPFNCSWDGCDKKFARSDELSRHRRTHTGEKKFVCPVCDRRFMRSDHLTKHARRHMTTKKIPGWQAEVGKLNRIAS
AESPGSPLVSMPASA*

Gene Symbol:KLF11
Accession:NM_001177718
Location:EXON
Amino Acid Prediction: G to V (nonsynonymous)
Amino Acid Position: 139
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDICESILERKRHDSERSTCSILEQTDMEAVEALVCMSSWGQRSQKGDLLRIRPLTPVSDSGDVTTTVHMDAATPELPKD
FHSLSTLCITPPQSPDLVEPSTRTPVSPQVTDSKACTATDVLQSSAVVARALSGGAERVLLGLEPVPSSPCRAKGTSVIR
HTGESPAACFPTIQTPDCRLSDSREGEEQLLGHFETLQDTHLTDSLLSTNLVSCQPCLHKSGGLLLTDKGQQAGWPGAVQ
TCSPKNYENDLPRKTTPLISVSVPAPPVLCQMIPVTGQSSMLPAFLKPPPQLSVGTVRPILAQAAPAPQPVFVGPAVPQG
AVMLVLPQGALPPPAPCAANVMAAGNTKLLPLAPAPVFITSSQNCVPQVDFSRRRNYVCSFPGCRKTYFKSSHLKAHLRT
HTGEKPFNCSWDGCDKKFARSDELSRHRRTHTGEKKFVCPVCDRRFMRSDHLTKHARRHMTTKKIPGWQAEVGKLNRIAS
AESPGSPLVSMPASA*

Gene Symbol:KLF11
Accession:NM_003597
Location:EXON
Amino Acid Prediction: G to V (nonsynonymous)
Amino Acid Position: 156
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHTPDFAGPDDARAVDIMDICESILERKRHDSERSTCSILEQTDMEAVEALVCMSSWGQRSQKGDLLRIRPLTPVSDSGD
VTTTVHMDAATPELPKDFHSLSTLCITPPQSPDLVEPSTRTPVSPQVTDSKACTATDVLQSSAVVARALSGGAERVLLGL
EPVPSSPCRAKGTSVIRHTGESPAACFPTIQTPDCRLSDSREGEEQLLGHFETLQDTHLTDSLLSTNLVSCQPCLHKSGG
LLLTDKGQQAGWPGAVQTCSPKNYENDLPRKTTPLISVSVPAPPVLCQMIPVTGQSSMLPAFLKPPPQLSVGTVRPILAQ
AAPAPQPVFVGPAVPQGAVMLVLPQGALPPPAPCAANVMAAGNTKLLPLAPAPVFITSSQNCVPQVDFSRRRNYVCSFPG
CRKTYFKSSHLKAHLRTHTGEKPFNCSWDGCDKKFARSDELSRHRRTHTGEKKFVCPVCDRRFMRSDHLTKHARRHMTTK
KIPGWQAEVGKLNRIASAESPGSPLVSMPASA*

Variant Samples
Additional References at PubMed
PMID:18414213  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000117439 CLINVAR
dbSNP (RS) rs587780378 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene KLF11 CLINVAR
OMIM 603301 CLINVAR