RGD:12847799 Rat Genome Database

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Pathways
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Variant: RGD:12847799 -  Homo sapiens

RGD ID: 12847799
RS ID: rs140420950
ClinVar ID: CV367105
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: STT3B  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 3 31,674,561
GRCh38 3 31,633,069
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_034164.1:g.105569A>G
NC_000003.12:g.31633069A>G
NC_000003.11:g.31674561A>G
NP_849193.1:p.Ala774=
More... 		07/11/2018 synonymous variant benign|likely benign AllHighlyPenetrant; CDG Ix; Congenital disorder of glycosylation type 1x; STT3B-CDG
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:STT3B
Accession:XM_017005858
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 628
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MITAGLIHWILNTLNITVHIRDVCVFLAPTFSGLTSISTFLLTRELWNQGAGLLAACFIAIVPGYISRSVAGSFDNEGIA
IFALQFTYYLWVKSVKTGSVFWTMCCCLSYFYMVSAWGGYVFIINLIPLHVFVLLLMQRYSKRVYIAYSTFYIVGLILSM
QIPFVGFQPIRTSEHMAAAGVFALLQAYAFLQYLRDRLTKQEFQTLFFLGVSLAAGAVFLSVIYLTYTGYIAPWSGRFYS
LWDTGYAKIHIPIIASVSEHQPTTWVSFFFDLHILVCTFPAGLWFCIKNINDERVFVALYAISAVYFAGVMVRLMLTLTP
VVCMLSAIAFSNVFEHYLGDDMKRENPPVEDSSDEDDKRNQGNLYDKAGKVRKHATEQEKTEEGLGPNIKSIVTMLMLML
LMMFAVHCTWVTSNAYSSPSVVLASYNHDGTRNILDDFREAYFWLRQNTDEHARVMSWWDYGYQIAGMANRTTLVDNNTW
NNSHIALVGKAMSSNETAAYKIMRTLDVDYVLVIFGGVIGYSGDDINKFLWMVRIAEGEHPKDIRESDYFTPQGEFRVDK
AGSPTLLNCLMYKMSYYRFGEMQLDFRTPPGFDRTRNAEIGNKDIKFKHLEEAFTSEHWLVRIYKVKAPDNRETLDHKPR
VTNIFPKQKYLSKKTTKRKRGYIKNKLVFKKGKKISKKTV*

Gene Symbol:STT3B
Accession:NM_178862
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 774
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEPSAPESKHKSSLNSSPWSGLMALGNSRHGHHGPGAQCAHKAAGGAAPPKPAPAGLSGGLSQPAGWQSLLSFTILFLA
WLAGFSSRLFAVIRFESIIHEFDPWFNYRSTHHLASHGFYEFLNWFDERAWYPLGRIVGGTVYPGLMITAGLIHWILNTL
NITVHIRDVCVFLAPTFSGLTSISTFLLTRELWNQGAGLLAACFIAIVPGYISRSVAGSFDNEGIAIFALQFTYYLWVKS
VKTGSVFWTMCCCLSYFYMVSAWGGYVFIINLIPLHVFVLLLMQRYSKRVYIAYSTFYIVGLILSMQIPFVGFQPIRTSE
HMAAAGVFALLQAYAFLQYLRDRLTKQEFQTLFFLGVSLAAGAVFLSVIYLTYTGYIAPWSGRFYSLWDTGYAKIHIPII
ASVSEHQPTTWVSFFFDLHILVCTFPAGLWFCIKNINDERVFVALYAISAVYFAGVMVRLMLTLTPVVCMLSAIAFSNVF
EHYLGDDMKRENPPVEDSSDEDDKRNQGNLYDKAGKVRKHATEQEKTEEGLGPNIKSIVTMLMLMLLMMFAVHCTWVTSN
AYSSPSVVLASYNHDGTRNILDDFREAYFWLRQNTDEHARVMSWWDYGYQIAGMANRTTLVDNNTWNNSHIALVGKAMSS
NETAAYKIMRTLDVDYVLVIFGGVIGYSGDDINKFLWMVRIAEGEHPKDIRESDYFTPQGEFRVDKAGSPTLLNCLMYKM
SYYRFGEMQLDFRTPPGFDRTRNAEIGNKDIKFKHLEEAFTSEHWLVRIYKVKAPDNRETLDHKPRVTNIFPKQKYLSKK
TTKRKRGYIKNKLVFKKGKKISKKTV*

Gene Symbol:STT3B
Accession:XM_011533465
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000444139 CLINVAR
  RCV000871995 CLINVAR
  RCV003970212 CLINVAR
dbSNP (RS) rs140420950 CLINVAR
MedGen C2931007 CLINVAR
  CN169374 CLINVAR
NCBI Gene STT3B CLINVAR
OMIM 608605 CLINVAR
  615597 CLINVAR