RGD:11638281 Rat Genome Database

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Variant: RGD:11638281 -  Homo sapiens

RGD ID: 11638281
RS ID: rs762657214
ClinVar ID: CV268386
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CABP4  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 67,222,966
GRCh38 11 67,455,495
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_021211.1:g.5149G>C
NC_000011.10:g.67455495G>C
NC_000011.9:g.67222966G>C
NP_660201.1:p.Gly24=
More... 		10/29/2015 5 prime utr variant|intron variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:CABP4
Accession:NM_001300895
Location:5UTRS;EXON

Gene Symbol:CABP4
Accession:NM_001379183
Location:5UTRS;EXON

Gene Symbol:CABP4
Accession:NM_001300896
Location:5UTRS;INTRON

Gene Symbol:CABP4
Accession:XM_005274114
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 44
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTSWSPHTIYFTGEDRKVQRISEEQARGQQGPNLAIGRQKPPAGVVTPKSDAEEPPLTRKRSKKERGLRGSRKRTGSSGE
QTGPEAPGSSNNPPSTGEGPAGAPPASPGPASSRQSHRHRPDSLHDAAQRTYGPLLNRVFGKDRELGPEELDELQAAFEE
FDTDRDGYISHRELGDCMRTLGYMPTEMELLEWAAVWTLRSL*

Gene Symbol:CABP4
Accession:NM_145200
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 24
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTTEQARGQQGPNLAIGRQKPPAGVVTPKSDAEEPPLTRKRSKKERGLRGSRKRTGSSGEQTGPEAPGSSNNPPSTGEGP
AGAPPASPGPASSRQSHRHRPDSLHDAAQRTYGPLLNRVFGKDRELGPEELDELQAAFEEFDTDRDGYISHRELGDCMRT
LGYMPTEMELLEVSQHIKMRMGGRVDFEEFVELIGPKLREETAHMLGVRELRIAFREFDRDRDGRITVAELREAVPALLG
EPLAGPELDEMLREVDLNGDGTVDFDEFVMMLSRH*

Gene Symbol:CABP4
Accession:XM_024448615
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 24
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTTEQARGQQGPNLAIGRQKPPAGVVTPKSDAEEPPLTRKRSKKERGLRGSRKRTGSSGEQTGPEAPGSSNNPPSTGEGP
AGAPPASPGPASSRQSHRHRPDSLHDAAQRTYGPLLNRVFGKDRELGPEELDELQAAFEEFDTDRDGYISHRELGDCMRT
LGYMPTEMELLEVSQHIKMRMGGRVDFEEFVELIGPKLREETAHMLGVRELRIAFREFDRDRDGRITVAELREAVPALLG
EPLAGPELDEMLREVDLNGDGTVDFDEFVMMLSRH*

Gene Symbol:CABP4
Accession:NR_166529
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000299446 CLINVAR
dbSNP (RS) rs762657214 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene CABP4 CLINVAR
OMIM 608965 CLINVAR