RGD:15142118 Rat Genome Database

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Variant: RGD:15142118 -  Homo sapiens

RGD ID: 15142118
RS ID: rs34573687
ClinVar ID: CV693100
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CABP4  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 67,225,937
GRCh38 11 67,458,466
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001379183.1:c.432C>T
NP_001366112.1:p.Asp144=
NG_021211.1:g.8120C>T
NC_000011.10:g.67458466C>T
More... 		12/07/2018 non-coding transcript variant|synonymous variant benign Congenital stationary night blindness, type 2B; NIGHT BLINDNESS, CONGENITAL STATIONARY, INCOMPLETE, AUTOSOMAL RECESSIVE; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CABP4
Accession:NM_145200
Location:EXON
Amino Acid Prediction: D to D (synonymous)
Amino Acid Position: 249
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTTEQARGQQGPNLAIGRQKPPAGVVTPKSDAEEPPLTRKRSKKERGLRGSRKRTGSSGEQTGPEAPGSSNNPPSTGEGP
AGAPPASPGPASSRQSHRHRPDSLHDAAQRTYGPLLNRVFGKDRELGPEELDELQAAFEEFDTDRDGYISHRELGDCMRT
LGYMPTEMELLEVSQHIKMRMGGRVDFEEFVELIGPKLREETAHMLGVRELRIAFREFDRDRDGRITVAELREAVPALLG
EPLAGPELDEMLREVDLNGDGTVDFDEFVMMLSRH*

Gene Symbol:CABP4
Accession:XM_024448615
Location:EXON
Amino Acid Prediction: D to D (synonymous)
Amino Acid Position: 249
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTTEQARGQQGPNLAIGRQKPPAGVVTPKSDAEEPPLTRKRSKKERGLRGSRKRTGSSGEQTGPEAPGSSNNPPSTGEGP
AGAPPASPGPASSRQSHRHRPDSLHDAAQRTYGPLLNRVFGKDRELGPEELDELQAAFEEFDTDRDGYISHRELGDCMRT
LGYMPTEMELLEVSQHIKMRMGGRVDFEEFVELIGPKLREETAHMLGVRELRIAFREFDRDRDGRITVAELREAVPALLG
EPLAGPELDEMLREVDLNGDGTVDFDEFVMMLSRH*

Gene Symbol:CABP4
Accession:NM_001379183
Location:EXON
Amino Acid Prediction: D to D (synonymous)
Amino Acid Position: 144
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTEPWLALGTSWTLPLQDRELGPEELDELQAAFEEFDTDRDGYISHRELGDCMRTLGYMPTEMELLEVSQHIKMRMGGRV
DFEEFVELIGPKLREETAHMLGVRELRIAFREFDRDRDGRITVAELREAVPALLGEPLAGPELDEMLREVDLNGDGTVDF
DEFVMMLSRH*

Gene Symbol:CABP4
Accession:NM_001300896
Location:EXON
Amino Acid Prediction: D to D (synonymous)
Amino Acid Position: 144
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTEPWLALGTSWTLPLQDRELGPEELDELQAAFEEFDTDRDGYISHRELGDCMRTLGYMPTEMELLEVSQHIKMRMGGRV
DFEEFVELIGPKLREETAHMLGVRELRIAFREFDRDRDGRITVAELREAVPALLGEPLAGPELDEMLREVDLNGDGTVDF
DEFVMMLSRH*

Gene Symbol:CABP4
Accession:NM_001300895
Location:EXON
Amino Acid Prediction: D to D (synonymous)
Amino Acid Position: 144
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTEPWLALGTSWTLPLQDRELGPEELDELQAAFEEFDTDRDGYISHRELGDCMRTLGYMPTEMELLEVSQHIKMRMGGRV
DFEEFVELIGPKLREETAHMLGVRELRIAFREFDRDRDGRITVAELREAVPALLGEPLAGPELDEMLREVDLNGDGTVDF
DEFVMMLSRH*

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

Gene Symbol:CABP4
Accession:XM_005274114
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000877803 CLINVAR
  RCV001107218 CLINVAR
dbSNP (RS) rs34573687 CLINVAR
MedGen C3661900 CLINVAR
  C4041558 CLINVAR
NCBI Gene CABP4 CLINVAR
OMIM 608965 CLINVAR
  610427 CLINVAR