RGD:11638428 Rat Genome Database

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Variant: RGD:11638428 -  Homo sapiens

RGD ID: 11638428
RS ID: rs140778634
ClinVar ID: CV271240
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ABCG8  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 44,099,244
GRCh38 2 43,872,105
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000002.12:g.43872105C>T
NC_000002.11:g.44099244C>T
NP_071882.1:p.Thr365Met
NM_001357321.2:c.1094C>T
More... 		04/24/2018 missense variant conflicting interpretations of pathogenicity|uncertain significance none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ABCG8
Accession:NM_001357321
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 365
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGKAAEERGLPKGATPQDTSGLQDRLFSSESDNSLYFTYSGQPNTLEVRDLNYQVDLASQVPWFEQLAQFKMPWTSPSC
QNSCELGIQNLSFKVRSGQMLAIIGSSGCGRASLLDVITGRGHGGKIKSGQIWINGQPSSPQLVRKCVAHVRQHNQLLPN
LTVRETLAFIAQMRLPRTFSQAQRDKRVEDVIAELRLRQCADTRVGNMYVRGLSGGERRRVSIGVQLLWNPGILILDEPT
SGLDSFTAHNLVKTLSRLAKGNRLVLISLHQPRSDIFRLFDLVLLMTSGTPIYLGAAQHMVQYFTAIGYPCPRYSNPADF
YVDLTSIDRRSREQELATREKAQSLAALFLEKVRDLDDFLWKAEMKDLDEDTCVESVTPLDTNCLPSPTKMPGAVQQFTT
LIRRQISNDFRDLPTLLIHGAEACLMSMTIGFLYFGHGSIQLSFMDTAALLFMIGALIPFNVILDVISKCYSERAMLYYE
LEDGLYTTGPYFFAKILGELPEHCAYIIIYGMPTYWLANLRPGLQPFLLHFLLVWLVVFCCRIMALAAAALLPTFHMASF
FSNALYNSFYLAGGFMINLSSLWTVPAWISKVSFLRWCFEGLMKIQFSRRTYKMPLGNLTIAVSGDKILSVMELDSYPLY
AIYLIVIGLSGGFMVLYYVSLRFIKQKPSQDW*

Gene Symbol:ABCG8
Accession:NM_022437
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 365
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGKAAEERGLPKGATPQDTSGLQDRLFSSESDNSLYFTYSGQPNTLEVRDLNYQVDLASQVPWFEQLAQFKMPWTSPSC
QNSCELGIQNLSFKVRSGQMLAIIGSSGCGRASLLDVITGRGHGGKIKSGQIWINGQPSSPQLVRKCVAHVRQHNQLLPN
LTVRETLAFIAQMRLPRTFSQAQRDKRVEDVIAELRLRQCADTRVGNMYVRGLSGGERRRVSIGVQLLWNPGILILDEPT
SGLDSFTAHNLVKTLSRLAKGNRLVLISLHQPRSDIFRLFDLVLLMTSGTPIYLGAAQHMVQYFTAIGYPCPRYSNPADF
YVDLTSIDRRSREQELATREKAQSLAALFLEKVRDLDDFLWKAEMKDLDEDTCVESSVTPLDTNCLPSPTKMPGAVQQFT
TLIRRQISNDFRDLPTLLIHGAEACLMSMTIGFLYFGHGSIQLSFMDTAALLFMIGALIPFNVILDVISKCYSERAMLYY
ELEDGLYTTGPYFFAKILGELPEHCAYIIIYGMPTYWLANLRPGLQPFLLHFLLVWLVVFCCRIMALAAAALLPTFHMAS
FFSNALYNSFYLAGGFMINLSSLWTVPAWISKVSFLRWCFEGLMKIQFSRRTYKMPLGNLTIAVSGDKILSVMELDSYPL
YAIYLIVIGLSGGFMVLYYVSLRFIKQKPSQDW*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532   PMID:32088153  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000303441 CLINVAR
  RCV001143675 CLINVAR
dbSNP (RS) rs140778634 CLINVAR
MedGen C2749759 CLINVAR
  C3661900 CLINVAR
NCBI Gene ABCG8 CLINVAR
OMIM 210250 CLINVAR
  605460 CLINVAR