RGD:11637604 Rat Genome Database

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Variant: RGD:11637604 -  Homo sapiens

RGD ID: 11637604
RS ID: rs12085009
ClinVar ID: CV265441
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: B3GALT6  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 1,168,180
GRCh38 1 1,232,800
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_033265.1:g.5552G>C
NC_000001.11:g.1232800G>C
NC_000001.10:g.1168180G>C
NP_542172.2:p.Glu174Asp
More... 		10/18/2016 missense variant benign AllHighlyPenetrant; Ehlers-Danlos syndrome, progeroid type, 2; Spondyloepimetaphyseal dysplasia joint laxity; Spondyloepimetaphyseal dysplasia with joint laxity
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:B3GALT6
Accession:NM_080605
Location:EXON
Amino Acid Prediction: E to D (nonsynonymous)
Amino Acid Position: 174
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKLLRRAWRRRAALGLGTLALCGAALLYLARCAAEPGDPRAMSGRSPPPPAPARAAAFLAVLVASAPRAAERRSVIRSTW
LARRGAPGDVWARFAVGTAGLGAEERRALEREQARHGDLLLLPALRDAYENLTAKVLAMLAWLDEHVAFEFVLKADDDSF
ARLDALLAELRARDPARRRRLYWGFFSGRGRVKPGGRWREAAWQLCDYYLPYALGGGYVLSADLVHYLRLSRDYLRAWHS
EDVSLGAWLAPVDVQREHDPRFDTEYRSRGCSNQYLVTHKQSLEDMLEKHATLAREGRLCKREVQLRLSYVYDWSAPPSQ
CCQRREGIP*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000287240 CLINVAR
  RCV001514849 CLINVAR
dbSNP (RS) rs12085009 CLINVAR
MedGen C3809210 CLINVAR
  CN169374 CLINVAR
NCBI Gene B3GALT6 CLINVAR
OMIM 271640 CLINVAR
  615291 CLINVAR
  615349 CLINVAR
SNOMED CT 254100000 CLINVAR