RGD:151802194 Rat Genome Database

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Variant: RGD:151802194 -  Homo sapiens

RGD ID: 151802194
RS ID: rs149205795
ClinVar ID: CV1354317
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GCKR  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 27,720,177
GRCh38 2 27,497,310
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001486.4:c.127A>G
NG_028024.1:g.5472A>G
NC_000002.12:g.27497310A>G
NC_000002.11:g.27720177A>G
More... 		08/28/2021 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:GCKR
Accession:XM_011532763
Location:EXON
Amino Acid Prediction: K to E (nonsynonymous)
Amino Acid Position: 43
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPGTKRFQHVIETPEPGKWELSGYEAAVPITEKSNPLTQDLDEADAENIVRLLGQCDAEIFQEEGQALSTYQRLYSESIL
TTMVQVAGKVQEVLKEPDGGLVVLSGGGTSGRMAFLMSVSFNQLMKGLGQKPLYTYLIAGGDRSVVASREGTEDSALHGI
EELKKVAAGKKRVIVIGISVGLSAPFVAGQMDCCMNNTAVFLPVLVGFNPVSMARNDPIEDWSSTFRQVAERMQKMQEKQ
KAFVLNPAIGPEGLSGSSRMKGGSATKILLETLLLAAHKTVDQGIAASQRCLLEILRTFERAHQVTYSQSPKIATLMKSV
STRFPRCPWLSHW*

Gene Symbol:GCKR
Accession:NM_001486
Location:EXON
Amino Acid Prediction: K to E (nonsynonymous)
Amino Acid Position: 43
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPGTKRFQHVIETPEPGKWELSGYEAAVPITEKSNPLTQDLDEADAENIVRLLGQCDAEIFQEEGQALSTYQRLYSESIL
TTMVQVAGKVQEVLKEPDGGLVVLSGGGTSGRMAFLMSVSFNQLMKGLGQKPLYTYLIAGGDRSVVASREGTEDSALHGI
EELKKVAAGKKRVIVIGISVGLSAPFVAGQMDCCMNNTAVFLPVLVGFNPVSMARNDPIEDWSSTFRQVAERMQKMQEKQ
KAFVLNPAIGPEGLSGSSRMKGGSATKILLETLLLAAHKTVDQGIAASQRCLLEILRTFERAHQVTYSQSPKIATLMKSV
STSLEKKGHVYLVGWQTLGIIAIMDGVECIHTFGADFRDVRGFLIGDHSDMFNQKAELTNQGPQFTFSQEDFLTSILPSL
TEIDTVVFIFTLDDNLTEVQTIVEQVKEKTNHIQALAHSTVGQTLLIPLKKLFPSIISITWPLLFFEYEGNFIQKFQREL
STKWVLNTVSTGAHVLLGKILQNHMLDLRISNSKLFWRALAMLQRFSGQSKARCIESLLRAIHFPQPLSDDIRAAPISCH
VQVAHEKEQVIPIALLSLLFRCSITEAQAHLAAAPSVCEAVRSALAGPGQKRTADPLEILEPDVQ*

Gene Symbol:GCKR
Accession:XR_001738699
Location:EXON;NON-CODING

Gene Symbol:GCKR
Accession:XM_017003797
Location:INTRON

Gene Symbol:GCKR
Accession:XM_017003796
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532   PMID:32041611  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001867225 CLINVAR
dbSNP (RS) rs149205795 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene GCKR CLINVAR
OMIM 600842 CLINVAR